Linked Data
ClinVar Variation Id:
790599
dbSNP Id:
rs148290305
ExAC:
7:75211393 G / A
gnomAD v2:
7-75211393-G-A
gnomAD v3:
7-75582077-G-A
gnomAD v4:
7-75582077-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.75582077G>A , CM000669.2:g.75582077G>A | GRCh38 |
| NC_000007.13:g.75211393G>A , CM000669.1:g.75211393G>A | GRCh37 |
| NC_000007.12:g.75049329G>A | NCBI36 |
| NG_023251.2:g.161885C>T | |
| NG_023251.3:g.161885C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336926.11:c.540C>T MANE Select | ENSP00000336747.6:p.Asn180= | |
| ENST00000336926.10:c.540C>T | ENSP00000336747.6:p.Asn180= | |
| ENST00000434438.6:c.540C>T | ENSP00000410300.2:p.Asn180= | |
| ENST00000616821.4:c.453C>T | ENSP00000484528.1:p.Asn151= | |
| NM_001243198.2:c.540C>T | NP_001230127.1:p.Asn180= | |
| NM_005338.6:c.540C>T | NP_005329.3:p.Asn180= | |
| XM_005250304.2:c.453C>T | XP_005250361.1:p.Asn151= | |
| XM_005250305.2:c.438C>T | XP_005250362.1:p.Asn146= | |
| XM_011516116.1:c.540C>T | XP_011514418.1:p.Asn180= | |
| XM_011516116.2:c.540C>T | XP_011514418.1:p.Asn180= | |
| XM_017012099.1:c.498C>T | XP_016867588.1:p.Asn166= | |
| NM_005338.7:c.540C>T MANE Select | NP_005329.3:p.Asn180= | |
| NM_001243198.3:c.540C>T | NP_001230127.1:p.Asn180= | |
| NM_001382444.1:c.438C>T | NP_001369373.1:p.Asn146= | |
| NM_001382445.1:c.453C>T | NP_001369374.1:p.Asn151= |