Linked Data
ClinVar Variation Id:
1281357
ClinVar RCV Id:
RCV001691489
dbSNP Id:
rs369995813
ExAC:
1:202566117 T / A
gnomAD v2:
1-202566117-T-A
gnomAD v3:
1-202596989-T-A
gnomAD v4:
1-202596989-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.202596989T>A , CM000663.2:g.202596989T>A | GRCh38 |
| NC_000001.10:g.202566117T>A , CM000663.1:g.202566117T>A | GRCh37 |
| NC_000001.9:g.200832740T>A | NCBI36 |
| NG_041776.1:g.118435A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367268.5:c.1054-26A>T MANE Select | ENSP00000356237.4:n.1054-26A>T | |
| ENST00000367267.5:c.1054-26A>T | ENSP00000356236.1:n.1054-26A>T | |
| ENST00000367268.4:c.1054-26A>T | ENSP00000356237.4:n.1054-26A>T | |
| NM_001136504.1:c.1054-26A>T | NP_001129976.1:n.1054-26A>T | |
| NM_177402.4:c.1054-26A>T | NP_796376.2:n.1054-26A>T | |
| XM_011509192.1:c.1063-26A>T | XP_011507494.1:n.1063-26A>T | |
| XR_922430.1:n.13T>A | ||
| XM_011509192.2:c.1063-26A>T | XP_011507494.1:n.1063-26A>T | |
| XM_017000309.2:c.1234-26A>T | XP_016855798.1:n.1234-26A>T | |
| XM_017000310.2:c.1225-26A>T | XP_016855799.1:n.1225-26A>T | |
| XM_017000311.2:c.1063-26A>T | XP_016855800.1:n.1063-26A>T | |
| XM_017000312.1:c.1063-26A>T | XP_016855801.1:n.1063-26A>T | |
| XM_017000313.1:c.1054-26A>T | XP_016855802.1:n.1054-26A>T | |
| NM_177402.5:c.1054-26A>T MANE Select | NP_796376.2:n.1054-26A>T |