Linked Data
ClinVar Variation Id:
470778
dbSNP Id:
rs370435082
ExAC:
2:29474102 G / A
gnomAD v2:
2-29474102-G-A
gnomAD v3:
2-29251236-G-A
gnomAD v4:
2-29251236-G-A
COSMIC:
COSM3771862
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29251236G>A , CM000664.2:g.29251236G>A | GRCh38 |
| NC_000002.11:g.29474102G>A , CM000664.1:g.29474102G>A | GRCh37 |
| NC_000002.10:g.29327606G>A | NCBI36 |
| NG_009445.1:g.675331C>T , LRG_488:g.675331C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.2073C>T MANE Select | ENSP00000373700.3:p.Ser691= | |
| ENST00000389048.7:c.2073C>T | ENSP00000373700.3:p.Ser691= | |
| ENST00000618119.4:c.942C>T | ENSP00000482733.1:p.Ser314= | |
| NM_004304.4:c.2073C>T | NP_004295.2:p.Ser691= | |
| XR_001738688.2:n.3003C>T | ||
| NM_004304.5:c.2073C>T MANE Select | NP_004295.2:p.Ser691= |