Linked Data
dbSNP Id:
rs27037
gnomAD v2:
5-96094694-T-G
gnomAD v3:
5-96758990-T-G
gnomAD v4:
5-96758990-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.96758990T>G , CM000667.2:g.96758990T>G | GRCh38 |
| NC_000005.9:g.96094694T>G , CM000667.1:g.96094694T>G | GRCh37 |
| NC_000005.8:g.96120450T>G | NCBI36 |
| NG_027839.1:g.60155A>C | |
| NG_029490.1:g.101954T>G | |
| NG_027839.2:g.181994A>C | |
| NG_029490.2:g.101954T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000484552.6:c.753+1336T>G | ENSP00000432878.2:n.753+1336T>G | |
| ENST00000508608.6:c.1683+1336T>G | ENSP00000422677.2:n.1683+1336T>G | |
| ENST00000510756.6:c.1461+1336T>G | ENSP00000422176.2:n.1461+1336T>G | |
| ENST00000674587.1:c.1290+1336T>G | ENSP00000501797.1:n.1290+1336T>G | |
| ENST00000674702.1:c.1575+1336T>G | ENSP00000502345.1:n.1575+1336T>G | |
| ENST00000674984.1:c.1767+1336T>G | ENSP00000501713.1:n.1767+1336T>G | |
| ENST00000675033.1:c.1461+1336T>G | ENSP00000501659.1:n.1461+1336T>G | |
| ENST00000675179.1:c.1833+1336T>G MANE Select | ENSP00000501872.1:n.1833+1336T>G | |
| ENST00000675185.1:c.215-3284T>G | ||
| ENST00000675266.1:c.1735+1336T>G | ||
| ENST00000675267.1:c.*1457+1336T>G | ENSP00000502095.1:n.*1457+1336T>G | |
| ENST00000675275.1:c.550+1336T>G | ||
| ENST00000675479.1:c.1446+1336T>G | ENSP00000502244.1:n.1446+1336T>G | |
| ENST00000675614.1:c.1503+1336T>G | ENSP00000502136.1:n.1503+1336T>G | |
| ENST00000675663.1:c.1722+1336T>G | ENSP00000502449.1:n.1722+1336T>G | |
| ENST00000675734.1:n.377+1336T>G | ||
| ENST00000675858.1:c.1377+1336T>G | ENSP00000501780.1:n.1377+1336T>G | |
| ENST00000309190.9:c.1518+1336T>G | ENSP00000312523.5:n.1518+1336T>G | |
| ENST00000325674.11:c.753+1336T>G | ENSP00000320319.8:n.753+1336T>G | |
| ENST00000338252.7:c.1545+1336T>G | ENSP00000343421.3:n.1545+1336T>G | |
| ENST00000341926.7:c.1584+1336T>G | ENSP00000339914.3:n.1584+1336T>G | |
| ENST00000348386.7:n.1526+1336T>G | ||
| ENST00000395812.6:c.1710+1336T>G | ENSP00000379157.2:n.1710+1336T>G | |
| ENST00000395813.5:c.1584+1336T>G | ENSP00000379158.2:n.1584+1336T>G | |
| ENST00000437034.6:c.839+1336T>G | ||
| ENST00000484552.5:c.811+1336T>G | ||
| ENST00000504465.5:c.1368+1336T>G | ENSP00000425670.1:n.1368+1336T>G | |
| ENST00000508579.5:c.729+1336T>G | ENSP00000425787.1:n.729+1336T>G | |
| ENST00000508608.5:c.1722+1336T>G | ENSP00000422677.1:n.1722+1336T>G | |
| ENST00000508830.5:c.1833+1336T>G | ENSP00000425721.1:n.1833+1336T>G | |
| ENST00000509903.5:c.1479+1336T>G | ENSP00000426946.1:n.1479+1336T>G | |
| ENST00000510098.1:c.69+1336T>G | ENSP00000427195.1:n.69+1336T>G | |
| ENST00000510156.5:c.1584+1336T>G | ENSP00000422325.1:n.1584+1336T>G | |
| ENST00000510500.5:c.856+1336T>G | ||
| ENST00000510756.5:c.1767+1336T>G | ENSP00000422176.1:n.1767+1336T>G | |
| ENST00000511049.5:c.1542+1336T>G | ENSP00000421130.1:n.1542+1336T>G | |
| ENST00000511782.5:c.1542+1336T>G | ENSP00000423638.1:n.1542+1336T>G | |
| ENST00000515663.5:c.753+1336T>G | ENSP00000422929.1:n.753+1336T>G | |
| NM_001042440.3:c.1710+1336T>G | NP_001035905.1:n.1710+1336T>G | |
| NM_001190442.1:c.1545+1336T>G | NP_001177371.1:n.1545+1336T>G | |
| NM_001284212.1:c.1461+1336T>G | NP_001271141.1:n.1461+1336T>G | |
| NM_001284213.1:c.1368+1336T>G | NP_001271142.1:n.1368+1336T>G | |
| NM_173060.3:c.1518+1336T>G | NP_775083.1:n.1518+1336T>G | |
| NR_104285.1:n.840+1336T>G | ||
| XM_006714696.2:c.1833+1336T>G | XP_006714759.1:n.1833+1336T>G | |
| XM_006714697.2:c.1833+1336T>G | XP_006714760.1:n.1833+1336T>G | |
| XM_006714698.2:c.1794+1336T>G | XP_006714761.1:n.1794+1336T>G | |
| XM_006714699.2:c.1788+1336T>G | XP_006714762.1:n.1788+1336T>G | |
| XM_006714700.2:c.1776+1336T>G | XP_006714763.1:n.1776+1336T>G | |
| XM_006714701.2:c.1767+1336T>G | XP_006714764.1:n.1767+1336T>G | |
| XM_006714702.2:c.1731+1336T>G | XP_006714765.1:n.1731+1336T>G | |
| XM_006714703.2:c.1728+1336T>G | XP_006714766.1:n.1728+1336T>G | |
| XM_006714704.2:c.1722+1336T>G | XP_006714767.1:n.1722+1336T>G | |
| XM_006714705.2:c.1710+1336T>G | XP_006714768.1:n.1710+1336T>G | |
| XM_006714706.2:c.1665+1336T>G | XP_006714769.1:n.1665+1336T>G | |
| XM_006714707.2:c.1584+1336T>G | XP_006714770.1:n.1584+1336T>G | |
| XM_006714708.2:c.1545+1336T>G | XP_006714771.1:n.1545+1336T>G | |
| XM_006714709.2:c.1527+1336T>G | XP_006714772.1:n.1527+1336T>G | |
| XM_006714710.2:c.1479+1336T>G | XP_006714773.1:n.1479+1336T>G | |
| XM_006714711.2:c.1461+1336T>G | XP_006714774.1:n.1461+1336T>G | |
| XM_006714712.2:c.1422+1336T>G | XP_006714775.1:n.1422+1336T>G | |
| XM_006714713.2:c.753+1336T>G | XP_006714776.1:n.753+1336T>G | |
| XM_006714714.2:c.753+1336T>G | XP_006714777.1:n.753+1336T>G | |
| XM_006714715.2:c.729+1336T>G | XP_006714778.1:n.729+1336T>G | |
| XM_011543654.1:c.1752+1336T>G | XP_011541956.1:n.1752+1336T>G | |
| XM_011543655.1:c.1749+1336T>G | XP_011541957.1:n.1749+1336T>G | |
| XM_011543656.1:c.1686+1336T>G | XP_011541958.1:n.1686+1336T>G | |
| XM_011543657.1:c.1641+1336T>G | XP_011541959.1:n.1641+1336T>G | |
| XM_011543658.1:c.1437+1336T>G | XP_011541960.1:n.1437+1336T>G | |
| NM_001042440.4:c.1710+1336T>G | NP_001035905.1:n.1710+1336T>G | |
| NM_001042441.2:c.1776+1336T>G | NP_001035906.1:n.1776+1336T>G | |
| NM_001042442.2:c.1767+1336T>G | NP_001035907.1:n.1767+1336T>G | |
| NM_001042443.2:c.1584+1336T>G | NP_001035908.1:n.1584+1336T>G | |
| NM_001042444.2:c.1461+1336T>G | NP_001035909.1:n.1461+1336T>G | |
| NM_001042445.2:c.1479+1336T>G | NP_001035910.1:n.1479+1336T>G | |
| NM_001042446.2:c.1422+1336T>G | NP_001035911.1:n.1422+1336T>G | |
| NM_001284212.3:c.1461+1336T>G | NP_001271141.1:n.1461+1336T>G | |
| NM_001284213.3:c.1368+1336T>G | NP_001271142.1:n.1368+1336T>G | |
| NM_001330626.1:c.1737+1336T>G | NP_001317555.1:n.1737+1336T>G | |
| NM_001330627.1:c.1710+1336T>G | NP_001317556.1:n.1710+1336T>G | |
| NM_001330628.1:c.1665+1336T>G | NP_001317557.1:n.1665+1336T>G | |
| NM_001330629.1:c.1749+1336T>G | NP_001317558.1:n.1749+1336T>G | |
| NM_001330630.1:c.1422+1336T>G | NP_001317559.1:n.1422+1336T>G | |
| NM_001330631.1:c.1545+1336T>G | NP_001317560.1:n.1545+1336T>G | |
| NM_001330632.1:c.1518+1336T>G | NP_001317561.1:n.1518+1336T>G | |
| NM_001330633.1:c.1527+1336T>G | NP_001317562.1:n.1527+1336T>G | |
| NM_001330634.1:c.1488+1336T>G | NP_001317563.1:n.1488+1336T>G | |
| NM_001750.6:c.1833+1336T>G | NP_001741.4:n.1833+1336T>G | |
| NM_173060.4:c.1518+1336T>G | NP_775083.1:n.1518+1336T>G | |
| NM_001042440.5:c.1710+1336T>G | NP_001035905.1:n.1710+1336T>G | |
| NM_001042441.3:c.1776+1336T>G | NP_001035906.1:n.1776+1336T>G | |
| NM_001042442.3:c.1767+1336T>G | NP_001035907.1:n.1767+1336T>G | |
| NM_001330626.2:c.1737+1336T>G | NP_001317555.1:n.1737+1336T>G | |
| NM_001330627.2:c.1710+1336T>G | NP_001317556.1:n.1710+1336T>G | |
| NM_001330628.2:c.1665+1336T>G | NP_001317557.1:n.1665+1336T>G | |
| NM_001330629.2:c.1749+1336T>G | NP_001317558.1:n.1749+1336T>G | |
| NM_001375317.1:c.1722+1336T>G | NP_001362246.1:n.1722+1336T>G | |
| NM_001750.7:c.1833+1336T>G MANE Select | NP_001741.4:n.1833+1336T>G | |
| NR_104285.2:n.778+1336T>G | ||
| NM_001042443.3:c.1584+1336T>G | NP_001035908.1:n.1584+1336T>G | |
| NM_001042444.3:c.1461+1336T>G | NP_001035909.1:n.1461+1336T>G | |
| NM_001042445.3:c.1479+1336T>G | NP_001035910.1:n.1479+1336T>G | |
| NM_001042446.3:c.1422+1336T>G | NP_001035911.1:n.1422+1336T>G | |
| NM_001190442.2:c.1545+1336T>G | NP_001177371.1:n.1545+1336T>G | |
| NM_001284212.4:c.1461+1336T>G | NP_001271141.1:n.1461+1336T>G | |
| NM_001284213.4:c.1368+1336T>G | NP_001271142.1:n.1368+1336T>G | |
| NM_001330630.2:c.1422+1336T>G | NP_001317559.1:n.1422+1336T>G | |
| NM_001330631.2:c.1545+1336T>G | NP_001317560.1:n.1545+1336T>G | |
| NM_001330632.2:c.1518+1336T>G | NP_001317561.1:n.1518+1336T>G | |
| NM_001330633.2:c.1527+1336T>G | NP_001317562.1:n.1527+1336T>G | |
| NM_001330634.2:c.1488+1336T>G | NP_001317563.1:n.1488+1336T>G | |
| NM_173060.5:c.1518+1336T>G | NP_775083.1:n.1518+1336T>G |