Linked Data
ClinVar Variation Id:
508188
dbSNP Id:
rs150955748
ExAC:
11:118039408 G / A
gnomAD v2:
11-118039408-G-A
gnomAD v3:
11-118168693-G-A
gnomAD v4:
11-118168693-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118168693G>A , CM000673.2:g.118168693G>A | GRCh38 |
| NC_000011.9:g.118039408G>A , CM000673.1:g.118039408G>A | GRCh37 |
| NC_000011.8:g.117544618G>A | NCBI36 |
| NG_042217.1:g.12930C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000278947.6:c.129C>T MANE Select | ENSP00000278947.5:p.Gly43= | |
| ENST00000658882.1:c.233C>T | ENSP00000499572.1:p.Ala78Val | |
| ENST00000665446.1:n.365C>T | ||
| ENST00000669850.1:n.371C>T | ||
| ENST00000278947.5:c.129C>T | ENSP00000278947.5:p.Gly43= | |
| NM_004588.4:c.129C>T | NP_004579.1:p.Gly43= | |
| NM_004588.5:c.129C>T MANE Select | NP_004579.1:p.Gly43= |