Linked Data
ClinVar Variation Id:
1266205
ClinVar RCV Id:
RCV001675501
dbSNP Id:
rs1559085
gnomAD v2:
5-96078702-A-G
gnomAD v3:
5-96742998-A-G
gnomAD v4:
5-96742998-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.96742998A>G , CM000667.2:g.96742998A>G | GRCh38 |
| NC_000005.9:g.96078702A>G , CM000667.1:g.96078702A>G | GRCh37 |
| NC_000005.8:g.96104458A>G | NCBI36 |
| NG_029490.1:g.85962A>G | |
| NG_029490.2:g.85962A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000508608.6:c.1050+242A>G | ENSP00000422677.2:n.1050+242A>G | |
| ENST00000510756.6:c.828+242A>G | ENSP00000422176.2:n.828+242A>G | |
| ENST00000674587.1:c.789+242A>G | ENSP00000501797.1:n.789+242A>G | |
| ENST00000674702.1:c.942+242A>G | ENSP00000502345.1:n.942+242A>G | |
| ENST00000674984.1:c.1134+242A>G | ENSP00000501713.1:n.1134+242A>G | |
| ENST00000675033.1:c.828+242A>G | ENSP00000501659.1:n.828+242A>G | |
| ENST00000675107.1:n.2205+242A>G | ||
| ENST00000675179.1:c.1200+242A>G MANE Select | ENSP00000501872.1:n.1200+242A>G | |
| ENST00000675266.1:c.1102+242A>G | ||
| ENST00000675267.1:c.*824+242A>G | ENSP00000502095.1:n.*824+242A>G | |
| ENST00000675479.1:c.813+242A>G | ENSP00000502244.1:n.813+242A>G | |
| ENST00000675614.1:c.870+242A>G | ENSP00000502136.1:n.870+242A>G | |
| ENST00000675663.1:c.1089+242A>G | ENSP00000502449.1:n.1089+242A>G | |
| ENST00000675858.1:c.828+242A>G | ENSP00000501780.1:n.828+242A>G | |
| ENST00000309190.9:c.885+242A>G | ENSP00000312523.5:n.885+242A>G | |
| ENST00000338252.7:c.912+242A>G | ENSP00000343421.3:n.912+242A>G | |
| ENST00000341926.7:c.951+242A>G | ENSP00000339914.3:n.951+242A>G | |
| ENST00000348386.7:n.893+242A>G | ||
| ENST00000395812.6:c.1077+242A>G | ENSP00000379157.2:n.1077+242A>G | |
| ENST00000395813.5:c.951+242A>G | ENSP00000379158.2:n.951+242A>G | |
| ENST00000437034.6:c.206+242A>G | ||
| ENST00000503828.5:c.96+242A>G | ENSP00000422807.1:n.96+242A>G | |
| ENST00000504465.5:c.735+242A>G | ENSP00000425670.1:n.735+242A>G | |
| ENST00000508579.5:c.96+242A>G | ENSP00000425787.1:n.96+242A>G | |
| ENST00000508608.5:c.1089+242A>G | ENSP00000422677.1:n.1089+242A>G | |
| ENST00000508830.5:c.1200+242A>G | ENSP00000425721.1:n.1200+242A>G | |
| ENST00000509259.5:c.96+242A>G | ENSP00000423846.1:n.96+242A>G | |
| ENST00000509903.5:c.846+242A>G | ENSP00000426946.1:n.846+242A>G | |
| ENST00000510156.5:c.951+242A>G | ENSP00000422325.1:n.951+242A>G | |
| ENST00000510500.5:c.223+242A>G | ||
| ENST00000510756.5:c.1134+242A>G | ENSP00000422176.1:n.1134+242A>G | |
| ENST00000511049.5:c.909+242A>G | ENSP00000421130.1:n.909+242A>G | |
| ENST00000511097.6:c.1095+242A>G | ENSP00000422951.2:n.1095+242A>G | |
| ENST00000511782.5:c.909+242A>G | ENSP00000423638.1:n.909+242A>G | |
| ENST00000513666.5:n.574+242A>G | ||
| NM_001042440.3:c.1077+242A>G | NP_001035905.1:n.1077+242A>G | |
| NM_001190442.1:c.912+242A>G | NP_001177371.1:n.912+242A>G | |
| NM_001284212.1:c.828+242A>G | NP_001271141.1:n.828+242A>G | |
| NM_001284213.1:c.735+242A>G | NP_001271142.1:n.735+242A>G | |
| NM_173060.3:c.885+242A>G | NP_775083.1:n.885+242A>G | |
| XM_006714696.2:c.1200+242A>G | XP_006714759.1:n.1200+242A>G | |
| XM_006714697.2:c.1200+242A>G | XP_006714760.1:n.1200+242A>G | |
| XM_006714698.2:c.1161+242A>G | XP_006714761.1:n.1161+242A>G | |
| XM_006714699.2:c.1155+242A>G | XP_006714762.1:n.1155+242A>G | |
| XM_006714700.2:c.1143+242A>G | XP_006714763.1:n.1143+242A>G | |
| XM_006714701.2:c.1134+242A>G | XP_006714764.1:n.1134+242A>G | |
| XM_006714702.2:c.1098+242A>G | XP_006714765.1:n.1098+242A>G | |
| XM_006714703.2:c.1095+242A>G | XP_006714766.1:n.1095+242A>G | |
| XM_006714704.2:c.1089+242A>G | XP_006714767.1:n.1089+242A>G | |
| XM_006714705.2:c.1077+242A>G | XP_006714768.1:n.1077+242A>G | |
| XM_006714706.2:c.1032+242A>G | XP_006714769.1:n.1032+242A>G | |
| XM_006714707.2:c.951+242A>G | XP_006714770.1:n.951+242A>G | |
| XM_006714708.2:c.912+242A>G | XP_006714771.1:n.912+242A>G | |
| XM_006714709.2:c.894+242A>G | XP_006714772.1:n.894+242A>G | |
| XM_006714710.2:c.846+242A>G | XP_006714773.1:n.846+242A>G | |
| XM_006714711.2:c.828+242A>G | XP_006714774.1:n.828+242A>G | |
| XM_006714712.2:c.789+242A>G | XP_006714775.1:n.789+242A>G | |
| XM_006714715.2:c.96+242A>G | XP_006714778.1:n.96+242A>G | |
| XM_011543654.1:c.1119+242A>G | XP_011541956.1:n.1119+242A>G | |
| XM_011543655.1:c.1200+242A>G | XP_011541957.1:n.1200+242A>G | |
| XM_011543656.1:c.1053+242A>G | XP_011541958.1:n.1053+242A>G | |
| XM_011543657.1:c.1008+242A>G | XP_011541959.1:n.1008+242A>G | |
| XM_011543658.1:c.804+242A>G | XP_011541960.1:n.804+242A>G | |
| XM_011543659.1:c.1161+242A>G | XP_011541961.1:n.1161+242A>G | |
| NM_001042440.4:c.1077+242A>G | NP_001035905.1:n.1077+242A>G | |
| NM_001042441.2:c.1143+242A>G | NP_001035906.1:n.1143+242A>G | |
| NM_001042442.2:c.1134+242A>G | NP_001035907.1:n.1134+242A>G | |
| NM_001042443.2:c.951+242A>G | NP_001035908.1:n.951+242A>G | |
| NM_001042444.2:c.828+242A>G | NP_001035909.1:n.828+242A>G | |
| NM_001042445.2:c.846+242A>G | NP_001035910.1:n.846+242A>G | |
| NM_001042446.2:c.789+242A>G | NP_001035911.1:n.789+242A>G | |
| NM_001284212.3:c.828+242A>G | NP_001271141.1:n.828+242A>G | |
| NM_001284213.3:c.735+242A>G | NP_001271142.1:n.735+242A>G | |
| NM_001330626.1:c.1104+242A>G | NP_001317555.1:n.1104+242A>G | |
| NM_001330627.1:c.1077+242A>G | NP_001317556.1:n.1077+242A>G | |
| NM_001330628.1:c.1032+242A>G | NP_001317557.1:n.1032+242A>G | |
| NM_001330629.1:c.1116+242A>G | NP_001317558.1:n.1116+242A>G | |
| NM_001330630.1:c.789+242A>G | NP_001317559.1:n.789+242A>G | |
| NM_001330631.1:c.912+242A>G | NP_001317560.1:n.912+242A>G | |
| NM_001330632.1:c.885+242A>G | NP_001317561.1:n.885+242A>G | |
| NM_001330633.1:c.894+242A>G | NP_001317562.1:n.894+242A>G | |
| NM_001330634.1:c.855+242A>G | NP_001317563.1:n.855+242A>G | |
| NM_001750.6:c.1200+242A>G | NP_001741.4:n.1200+242A>G | |
| NM_173060.4:c.885+242A>G | NP_775083.1:n.885+242A>G | |
| NM_001042440.5:c.1077+242A>G | NP_001035905.1:n.1077+242A>G | |
| NM_001042441.3:c.1143+242A>G | NP_001035906.1:n.1143+242A>G | |
| NM_001042442.3:c.1134+242A>G | NP_001035907.1:n.1134+242A>G | |
| NM_001330626.2:c.1104+242A>G | NP_001317555.1:n.1104+242A>G | |
| NM_001330627.2:c.1077+242A>G | NP_001317556.1:n.1077+242A>G | |
| NM_001330628.2:c.1032+242A>G | NP_001317557.1:n.1032+242A>G | |
| NM_001330629.2:c.1116+242A>G | NP_001317558.1:n.1116+242A>G | |
| NM_001375317.1:c.1089+242A>G | NP_001362246.1:n.1089+242A>G | |
| NM_001750.7:c.1200+242A>G MANE Select | NP_001741.4:n.1200+242A>G | |
| NM_001042443.3:c.951+242A>G | NP_001035908.1:n.951+242A>G | |
| NM_001042444.3:c.828+242A>G | NP_001035909.1:n.828+242A>G | |
| NM_001042445.3:c.846+242A>G | NP_001035910.1:n.846+242A>G | |
| NM_001042446.3:c.789+242A>G | NP_001035911.1:n.789+242A>G | |
| NM_001190442.2:c.912+242A>G | NP_001177371.1:n.912+242A>G | |
| NM_001284212.4:c.828+242A>G | NP_001271141.1:n.828+242A>G | |
| NM_001284213.4:c.735+242A>G | NP_001271142.1:n.735+242A>G | |
| NM_001330630.2:c.789+242A>G | NP_001317559.1:n.789+242A>G | |
| NM_001330631.2:c.912+242A>G | NP_001317560.1:n.912+242A>G | |
| NM_001330632.2:c.885+242A>G | NP_001317561.1:n.885+242A>G | |
| NM_001330633.2:c.894+242A>G | NP_001317562.1:n.894+242A>G | |
| NM_001330634.2:c.855+242A>G | NP_001317563.1:n.855+242A>G | |
| NM_173060.5:c.885+242A>G | NP_775083.1:n.885+242A>G |