Linked Data
ClinVar Variation Id:
3167124
ClinVar RCV Id:
RCV004464489
dbSNP Id:
rs145358886
ExAC:
15:64423986 G / T
gnomAD v2:
15-64423986-G-T
gnomAD v3:
15-64131787-G-T
gnomAD v4:
15-64131787-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.64131787G>T , CM000677.2:g.64131787G>T | GRCh38 |
| NC_000015.9:g.64423986G>T , CM000677.1:g.64423986G>T | GRCh37 |
| NC_000015.8:g.62211039G>T | NCBI36 |
| NG_029708.1:g.40904G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559844.6:c.1116G>T MANE Select | ENSP00000453785.1:p.Glu372Asp | |
| ENST00000261889.9:c.1116G>T | ENSP00000261889.5:p.Glu372Asp | |
| ENST00000380285.7:c.*721G>T | ENSP00000369638.3:n.*721G>T | |
| ENST00000558040.5:c.309+13621G>T | ENSP00000452668.1:n.309+13621G>T | |
| ENST00000559401.1:n.165G>T | ||
| ENST00000559844.5:c.1116G>T | ENSP00000453785.1:p.Glu372Asp | |
| ENST00000560260.5:c.*596G>T | ENSP00000452759.1:n.*596G>T | |
| ENST00000560829.5:c.462G>T | ENSP00000452651.1:p.Glu154Asp | |
| ENST00000561026.5:c.921G>T | ENSP00000453567.1:p.Glu307Asp | |
| NM_001242933.1:c.1116G>T | NP_001229862.1:p.Glu372Asp | |
| NM_003099.4:c.1116G>T | NP_003090.2:p.Glu372Asp | |
| NM_148955.3:c.921G>T | NP_683758.1:p.Glu307Asp | |
| XM_005254611.1:c.642G>T | XP_005254668.1:p.Glu214Asp | |
| XM_005254611.3:c.642G>T | XP_005254668.1:p.Glu214Asp | |
| XR_001751380.1:n.1289G>T | ||
| XR_001751381.1:n.1289G>T | ||
| NM_003099.5:c.1116G>T MANE Select | NP_003090.2:p.Glu372Asp | |
| NM_001242933.2:c.1116G>T | NP_001229862.1:p.Glu372Asp | |
| NM_148955.4:c.921G>T | NP_683758.1:p.Glu307Asp |