Linked Data
ClinVar Variation Id:
37298
ClinVar RCV Id:
RCV000030837
dbSNP Id:
rs145646425
ExAC:
11:117257920 C / T
gnomAD v2:
11-117257920-C-T
gnomAD v3:
11-117387204-C-T
gnomAD v4:
11-117387204-C-T
PubMed:
PMID:22863007
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.117387204C>T , CM000673.2:g.117387204C>T | GRCh38 |
| NC_000011.9:g.117257920C>T , CM000673.1:g.117257920C>T | GRCh37 |
| NC_000011.8:g.116763130C>T | NCBI36 |
| NG_033032.1:g.70427C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278935.8:c.1726C>T MANE Select | ENSP00000278935.3:p.Arg576Ter | |
| ENST00000278935.7:c.1726C>T | ENSP00000278935.3:p.Arg576Ter | |
| ENST00000529153.5:n.175C>T | ||
| ENST00000533223.1:n.2608C>T | ||
| ENST00000533675.5:n.1834C>T | ||
| ENST00000533706.5:n.1050C>T | ||
| NM_001271933.1:c.1735C>T | NP_001258862.1:p.Arg579Ter | |
| NM_014956.4:c.1726C>T | NP_055771.4:p.Arg576Ter | |
| XM_005271453.1:c.3412C>T | XP_005271510.1:p.Arg1138Ter | |
| XM_005271456.1:c.1726C>T | XP_005271513.1:p.Arg576Ter | |
| XM_005271457.1:c.1735C>T | XP_005271514.1:p.Arg579Ter | |
| XM_006718788.1:c.3421C>T | XP_006718851.1:p.Arg1141Ter | |
| XM_006718794.1:c.1648C>T | XP_006718857.1:p.Arg550Ter | |
| XM_011542670.1:c.3481C>T | XP_011540972.1:p.Arg1161Ter | |
| XM_011542671.1:c.3481C>T | XP_011540973.1:p.Arg1161Ter | |
| XM_011542672.1:c.3481C>T | XP_011540974.1:p.Arg1161Ter | |
| XM_011542673.1:c.3481C>T | XP_011540975.1:p.Arg1161Ter | |
| XM_011542674.1:c.3472C>T | XP_011540976.1:p.Arg1158Ter | |
| XM_011542675.1:c.3481C>T | XP_011540977.1:p.Arg1161Ter | |
| XM_011542676.1:c.3403C>T | XP_011540978.1:p.Arg1135Ter | |
| XM_011542677.1:c.3343C>T | XP_011540979.1:p.Arg1115Ter | |
| XM_011542678.1:c.3343C>T | XP_011540980.1:p.Arg1115Ter | |
| XM_011542679.1:c.3334C>T | XP_011540981.1:p.Arg1112Ter | |
| XM_011542680.1:c.3235C>T | XP_011540982.1:p.Arg1079Ter | |
| XM_011542681.1:c.3333-3573C>T | XP_011540983.1:n.3333-3573C>T | |
| XM_011542682.1:c.1795C>T | XP_011540984.1:p.Arg599Ter | |
| XM_011542683.1:c.1795C>T | XP_011540985.1:p.Arg599Ter | |
| XM_011542685.1:c.1717C>T | XP_011540987.1:p.Arg573Ter | |
| XM_011542686.1:c.1717C>T | XP_011540988.1:p.Arg573Ter | |
| XM_011542687.1:c.1657C>T | XP_011540989.1:p.Arg553Ter | |
| XM_011542688.1:c.1456C>T | XP_011540990.1:p.Arg486Ter | |
| XR_428971.2:n.3692C>T | ||
| XR_947808.1:n.3899C>T | ||
| XR_947809.1:n.3899C>T | ||
| XR_947810.1:n.3830C>T | ||
| XR_947811.1:n.4035C>T | ||
| XM_017017364.1:c.3472C>T | XP_016872853.1:p.Arg1158Ter | |
| XM_017017365.1:c.3472C>T | XP_016872854.1:p.Arg1158Ter | |
| XM_017017366.1:c.3472C>T | XP_016872855.1:p.Arg1158Ter | |
| XM_017017367.1:c.3472C>T | XP_016872856.1:p.Arg1158Ter | |
| XM_017017368.1:c.3472C>T | XP_016872857.1:p.Arg1158Ter | |
| XM_017017369.1:c.3472C>T | XP_016872858.1:p.Arg1158Ter | |
| XM_017017370.1:c.3472C>T | XP_016872859.1:p.Arg1158Ter | |
| XM_017017371.1:c.3394C>T | XP_016872860.1:p.Arg1132Ter | |
| XM_017017372.1:c.3334C>T | XP_016872861.1:p.Arg1112Ter | |
| XM_017017373.2:c.3334C>T | XP_016872862.1:p.Arg1112Ter | |
| XM_017017374.1:c.3334C>T | XP_016872863.1:p.Arg1112Ter | |
| XM_017017375.2:c.3334C>T | XP_016872864.1:p.Arg1112Ter | |
| XM_017017376.1:c.3325C>T | XP_016872865.1:p.Arg1109Ter | |
| XM_017017377.2:c.3226C>T | XP_016872866.1:p.Arg1076Ter | |
| XM_017017378.1:c.3324-3573C>T | XP_016872867.1:n.3324-3573C>T | |
| XM_017017379.1:c.1786C>T | XP_016872868.1:p.Arg596Ter | |
| XM_017017380.1:c.1786C>T | XP_016872869.1:p.Arg596Ter | |
| XM_017017381.1:c.1708C>T | XP_016872870.1:p.Arg570Ter | |
| XM_017017382.1:c.1708C>T | XP_016872871.1:p.Arg570Ter | |
| XM_017017383.1:c.1648C>T | XP_016872872.1:p.Arg550Ter | |
| XM_017017384.1:c.1648C>T | XP_016872873.1:p.Arg550Ter | |
| XM_017017385.1:c.1447C>T | XP_016872874.1:p.Arg483Ter | |
| XM_017017386.1:c.1363C>T | XP_016872875.1:p.Arg455Ter | |
| XR_001747793.1:n.3890C>T | ||
| XR_001747794.1:n.3890C>T | ||
| XR_002957132.1:n.3890C>T | ||
| XR_002957133.1:n.3830C>T | ||
| XR_428971.3:n.3692C>T | ||
| NM_014956.5:c.1726C>T MANE Select | NP_055771.4:p.Arg576Ter | |
| NM_001271933.2:c.1735C>T | NP_001258862.1:p.Arg579Ter |