Linked Data
ClinVar Variation Id:
836016
ClinVar RCV Id:
RCV001037037
dbSNP Id:
rs191668687
ExAC:
7:120428732 G / T
gnomAD v2:
7-120428732-G-T
gnomAD v3:
7-120788678-G-T
gnomAD v4:
7-120788678-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.120788678G>T , CM000669.2:g.120788678G>T | GRCh38 |
| NC_000007.13:g.120428732G>T , CM000669.1:g.120428732G>T | GRCh37 |
| NC_000007.12:g.120215968G>T | NCBI36 |
| NG_023203.1:g.74446C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222747.8:c.832C>A MANE Select | ENSP00000222747.3:p.Leu278Met | |
| ENST00000222747.7:c.832C>A | ENSP00000222747.3:p.Leu278Met | |
| ENST00000415871.5:c.832C>A | ENSP00000397699.1:p.Leu278Met | |
| ENST00000450414.5:c.811C>A | ENSP00000397411.1:n.811C>A | |
| NM_012338.3:c.832C>A | NP_036470.1:p.Leu278Met | |
| XM_005250239.1:c.832C>A | XP_005250296.1:p.Leu278Met | |
| XM_011515993.1:c.832C>A | XP_011514295.1:p.Leu278Met | |
| XM_011515994.1:c.832C>A | XP_011514296.1:p.Leu278Met | |
| XM_005250239.3:c.832C>A | XP_005250296.1:p.Leu278Met | |
| XM_017011913.1:c.757C>A | XP_016867402.1:p.Leu253Met | |
| NM_012338.4:c.832C>A MANE Select | NP_036470.1:p.Leu278Met |