Linked Data
ClinVar Variation Id:
2394492
ClinVar RCV Id:
RCV002738866
dbSNP Id:
rs759151369
ExAC:
5:96097981 T / C
gnomAD v2:
5-96097981-T-C
gnomAD v3:
5-96762277-T-C
gnomAD v4:
5-96762277-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.96762277T>C , CM000667.2:g.96762277T>C | GRCh38 |
| NC_000005.9:g.96097981T>C , CM000667.1:g.96097981T>C | GRCh37 |
| NC_000005.8:g.96123737T>C | NCBI36 |
| NG_027839.1:g.56868A>G | |
| NG_029490.1:g.105241T>C | |
| NG_027839.2:g.178707A>G | |
| NG_029490.2:g.105241T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000484552.6:c.757T>C (CAST) | ENSP00000432878.2:p.Phe253Leu | |
| ENST00000508608.6:c.1687T>C (CAST) | ENSP00000422677.2:p.Phe563Leu | |
| ENST00000510756.6:c.1465T>C (CAST) | ENSP00000422176.2:p.Phe489Leu | |
| ENST00000674587.1:c.1294T>C (CAST) | ENSP00000501797.1:p.Phe432Leu | |
| ENST00000674702.1:c.1579T>C (CAST) | ENSP00000502345.1:p.Phe527Leu | |
| ENST00000674984.1:c.1771T>C (CAST) | ENSP00000501713.1:p.Phe591Leu | |
| ENST00000675033.1:c.1465T>C (CAST) | ENSP00000501659.1:p.Phe489Leu | |
| ENST00000675179.1:c.1837T>C (CAST) MANE Select | ENSP00000501872.1:p.Phe613Leu | |
| ENST00000675185.1:c.218T>C (CAST) | ||
| ENST00000675266.1:c.1739T>C (CAST) | ||
| ENST00000675267.1:c.*1461T>C (CAST) | ENSP00000502095.1:n.*1461T>C | |
| ENST00000675275.1:c.554T>C (CAST) | ||
| ENST00000675479.1:c.1450T>C (CAST) | ENSP00000502244.1:p.Phe484Leu | |
| ENST00000675614.1:c.1507T>C (CAST) | ENSP00000502136.1:p.Phe503Leu | |
| ENST00000675663.1:c.1726T>C (CAST) | ENSP00000502449.1:p.Phe576Leu | |
| ENST00000675734.1:n.381T>C (CAST) | ||
| ENST00000675858.1:c.1381T>C (CAST) | ENSP00000501780.1:p.Phe461Leu | |
| ENST00000296754.7:c.*923A>G (ERAP1) | ENSP00000296754.3:n.*923A>G | |
| ENST00000309190.9:c.1522T>C (CAST) | ENSP00000312523.5:p.Phe508Leu | |
| ENST00000325674.11:c.757T>C (CAST) | ENSP00000320319.8:p.Phe253Leu | |
| ENST00000338252.7:c.1549T>C (CAST) | ENSP00000343421.3:p.Phe517Leu | |
| ENST00000341926.7:c.1588T>C (CAST) | ENSP00000339914.3:p.Phe530Leu | |
| ENST00000348386.7:n.1530T>C (CAST) | ||
| ENST00000395812.6:c.1714T>C (CAST) | ENSP00000379157.2:p.Phe572Leu | |
| ENST00000395813.5:c.1588T>C (CAST) | ENSP00000379158.2:p.Phe530Leu | |
| ENST00000437034.6:c.843T>C (CAST) | ||
| ENST00000484552.5:c.815T>C (CAST) | ||
| ENST00000504465.5:c.1372T>C (CAST) | ENSP00000425670.1:p.Phe458Leu | |
| ENST00000508579.5:c.733T>C (CAST) | ENSP00000425787.1:p.Phe245Leu | |
| ENST00000508608.5:c.1726T>C (CAST) | ENSP00000422677.1:p.Phe576Leu | |
| ENST00000508830.5:c.1837T>C (CAST) | ENSP00000425721.1:p.Phe613Leu | |
| ENST00000509903.5:c.1483T>C (CAST) | ENSP00000426946.1:p.Phe495Leu | |
| ENST00000510098.1:c.73T>C (CAST) | ENSP00000427195.1:p.Phe25Leu | |
| ENST00000510156.5:c.1588T>C (CAST) | ENSP00000422325.1:p.Phe530Leu | |
| ENST00000510500.5:c.860T>C (CAST) | ||
| ENST00000510756.5:c.1771T>C (CAST) | ENSP00000422176.1:p.Phe591Leu | |
| ENST00000511049.5:c.1546T>C (CAST) | ENSP00000421130.1:p.Phe516Leu | |
| ENST00000511782.5:c.1546T>C (CAST) | ENSP00000423638.1:p.Phe516Leu | |
| ENST00000515663.5:c.757T>C (CAST) | ENSP00000422929.1:p.Phe253Leu | |
| NM_001042440.3:c.1714T>C (CAST) | NP_001035905.1:p.Phe572Leu | |
| NM_001190442.1:c.1549T>C (CAST) | NP_001177371.1:p.Phe517Leu | |
| NM_001284212.1:c.1465T>C (CAST) | NP_001271141.1:p.Phe489Leu | |
| NM_001284213.1:c.1372T>C (CAST) | NP_001271142.1:p.Phe458Leu | |
| NM_016442.3:c.*923A>G (ERAP1) | NP_057526.3:n.*923A>G | |
| NM_173060.3:c.1522T>C (CAST) | NP_775083.1:p.Phe508Leu | |
| NR_104285.1:n.844T>C (CAST) | ||
| XM_006714696.2:c.1837T>C (CAST) | XP_006714759.1:p.Phe613Leu | |
| XM_006714697.2:c.1837T>C (CAST) | XP_006714760.1:p.Phe613Leu | |
| XM_006714698.2:c.1798T>C (CAST) | XP_006714761.1:p.Phe600Leu | |
| XM_006714699.2:c.1792T>C (CAST) | XP_006714762.1:p.Phe598Leu | |
| XM_006714700.2:c.1780T>C (CAST) | XP_006714763.1:p.Phe594Leu | |
| XM_006714701.2:c.1771T>C (CAST) | XP_006714764.1:p.Phe591Leu | |
| XM_006714702.2:c.1735T>C (CAST) | XP_006714765.1:p.Phe579Leu | |
| XM_006714703.2:c.1732T>C (CAST) | XP_006714766.1:p.Phe578Leu | |
| XM_006714704.2:c.1726T>C (CAST) | XP_006714767.1:p.Phe576Leu | |
| XM_006714705.2:c.1714T>C (CAST) | XP_006714768.1:p.Phe572Leu | |
| XM_006714706.2:c.1669T>C (CAST) | XP_006714769.1:p.Phe557Leu | |
| XM_006714707.2:c.1588T>C (CAST) | XP_006714770.1:p.Phe530Leu | |
| XM_006714708.2:c.1549T>C (CAST) | XP_006714771.1:p.Phe517Leu | |
| XM_006714709.2:c.1531T>C (CAST) | XP_006714772.1:p.Phe511Leu | |
| XM_006714710.2:c.1483T>C (CAST) | XP_006714773.1:p.Phe495Leu | |
| XM_006714711.2:c.1465T>C (CAST) | XP_006714774.1:p.Phe489Leu | |
| XM_006714712.2:c.1426T>C (CAST) | XP_006714775.1:p.Phe476Leu | |
| XM_006714713.2:c.757T>C (CAST) | XP_006714776.1:p.Phe253Leu | |
| XM_006714714.2:c.757T>C (CAST) | XP_006714777.1:p.Phe253Leu | |
| XM_006714715.2:c.733T>C (CAST) | XP_006714778.1:p.Phe245Leu | |
| XM_011543487.1:c.*923A>G (ERAP1) | XP_011541789.1:n.*923A>G | |
| XM_011543654.1:c.1756T>C (CAST) | XP_011541956.1:p.Phe586Leu | |
| XM_011543655.1:c.1753T>C (CAST) | XP_011541957.1:p.Phe585Leu | |
| XM_011543656.1:c.1690T>C (CAST) | XP_011541958.1:p.Phe564Leu | |
| XM_011543657.1:c.1645T>C (CAST) | XP_011541959.1:p.Phe549Leu | |
| XM_011543658.1:c.1441T>C (CAST) | XP_011541960.1:p.Phe481Leu | |
| NM_001042440.4:c.1714T>C (CAST) | NP_001035905.1:p.Phe572Leu | |
| NM_001042441.2:c.1780T>C (CAST) | NP_001035906.1:p.Phe594Leu | |
| NM_001042442.2:c.1771T>C (CAST) | NP_001035907.1:p.Phe591Leu | |
| NM_001042443.2:c.1588T>C (CAST) | NP_001035908.1:p.Phe530Leu | |
| NM_001042444.2:c.1465T>C (CAST) | NP_001035909.1:p.Phe489Leu | |
| NM_001042445.2:c.1483T>C (CAST) | NP_001035910.1:p.Phe495Leu | |
| NM_001042446.2:c.1426T>C (CAST) | NP_001035911.1:p.Phe476Leu | |
| NM_001284212.3:c.1465T>C (CAST) | NP_001271141.1:p.Phe489Leu | |
| NM_001284213.3:c.1372T>C (CAST) | NP_001271142.1:p.Phe458Leu | |
| NM_001330626.1:c.1741T>C (CAST) | NP_001317555.1:p.Phe581Leu | |
| NM_001330627.1:c.1714T>C (CAST) | NP_001317556.1:p.Phe572Leu | |
| NM_001330628.1:c.1669T>C (CAST) | NP_001317557.1:p.Phe557Leu | |
| NM_001330629.1:c.1753T>C (CAST) | NP_001317558.1:p.Phe585Leu | |
| NM_001330630.1:c.1426T>C (CAST) | NP_001317559.1:p.Phe476Leu | |
| NM_001330631.1:c.1549T>C (CAST) | NP_001317560.1:p.Phe517Leu | |
| NM_001330632.1:c.1522T>C (CAST) | NP_001317561.1:p.Phe508Leu | |
| NM_001330633.1:c.1531T>C (CAST) | NP_001317562.1:p.Phe511Leu | |
| NM_001330634.1:c.1492T>C (CAST) | NP_001317563.1:p.Phe498Leu | |
| NM_001349244.1:c.*923A>G (ERAP1) | NP_001336173.1:n.*923A>G | |
| NM_001750.6:c.1837T>C (CAST) | NP_001741.4:p.Phe613Leu | |
| NM_016442.4:c.*923A>G (ERAP1) | NP_057526.3:n.*923A>G | |
| NM_173060.4:c.1522T>C (CAST) | NP_775083.1:p.Phe508Leu | |
| XR_001742119.2:n.3908A>G (ERAP1) | ||
| NM_001042440.5:c.1714T>C (CAST) | NP_001035905.1:p.Phe572Leu | |
| NM_001042441.3:c.1780T>C (CAST) | NP_001035906.1:p.Phe594Leu | |
| NM_001042442.3:c.1771T>C (CAST) | NP_001035907.1:p.Phe591Leu | |
| NM_001330626.2:c.1741T>C (CAST) | NP_001317555.1:p.Phe581Leu | |
| NM_001330627.2:c.1714T>C (CAST) | NP_001317556.1:p.Phe572Leu | |
| NM_001330628.2:c.1669T>C (CAST) | NP_001317557.1:p.Phe557Leu | |
| NM_001330629.2:c.1753T>C (CAST) | NP_001317558.1:p.Phe585Leu | |
| NM_001375317.1:c.1726T>C (CAST) | NP_001362246.1:p.Phe576Leu | |
| NM_001750.7:c.1837T>C (CAST) MANE Select | NP_001741.4:p.Phe613Leu | |
| NR_104285.2:n.782T>C (CAST) | ||
| NM_001042443.3:c.1588T>C (CAST) | NP_001035908.1:p.Phe530Leu | |
| NM_001042444.3:c.1465T>C (CAST) | NP_001035909.1:p.Phe489Leu | |
| NM_001042445.3:c.1483T>C (CAST) | NP_001035910.1:p.Phe495Leu | |
| NM_001042446.3:c.1426T>C (CAST) | NP_001035911.1:p.Phe476Leu | |
| NM_001190442.2:c.1549T>C (CAST) | NP_001177371.1:p.Phe517Leu | |
| NM_001284212.4:c.1465T>C (CAST) | NP_001271141.1:p.Phe489Leu | |
| NM_001284213.4:c.1372T>C (CAST) | NP_001271142.1:p.Phe458Leu | |
| NM_001330630.2:c.1426T>C (CAST) | NP_001317559.1:p.Phe476Leu | |
| NM_001330631.2:c.1549T>C (CAST) | NP_001317560.1:p.Phe517Leu | |
| NM_001330632.2:c.1522T>C (CAST) | NP_001317561.1:p.Phe508Leu | |
| NM_001330633.2:c.1531T>C (CAST) | NP_001317562.1:p.Phe511Leu | |
| NM_001330634.2:c.1492T>C (CAST) | NP_001317563.1:p.Phe498Leu | |
| NM_001349244.2:c.*923A>G (ERAP1) | NP_001336173.1:n.*923A>G | |
| NM_016442.5:c.*923A>G (ERAP1) | NP_057526.3:n.*923A>G | |
| NM_173060.5:c.1522T>C (CAST) | NP_775083.1:p.Phe508Leu |