Linked Data
dbSNP Id:
rs760123082
ExAC:
3:93593181 C / T
gnomAD v2:
3-93593181-C-T
gnomAD v3:
3-93874337-C-T
gnomAD v4:
3-93874337-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.93874337C>T , CM000665.2:g.93874337C>T | GRCh38 |
| NC_000003.11:g.93593181C>T , CM000665.1:g.93593181C>T | GRCh37 |
| NC_000003.10:g.95075871C>T | NCBI36 |
| NG_009813.1:g.104754G>A , LRG_572:g.104754G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348974.5:c.1939G>A | ENSP00000330021.7:p.Val647Ile | |
| ENST00000394236.9:c.1939G>A MANE Select | ENSP00000377783.3:p.Val647Ile | |
| ENST00000407433.6:c.1894G>A | ENSP00000385794.2:p.Val632Ile | |
| ENST00000647936.1:c.*42G>A | ENSP00000496822.1:n.*42G>A | |
| ENST00000648381.1:n.2107G>A | ||
| ENST00000648853.1:c.1897G>A | ENSP00000497262.1:p.Val633Ile | |
| ENST00000650591.1:c.2035G>A | ENSP00000497376.1:p.Val679Ile | |
| ENST00000394236.7:c.1939G>A | ENSP00000377783.3:p.Val647Ile | |
| ENST00000407433.5:c.1546G>A | ENSP00000385794.1:p.Val516Ile | |
| NM_000313.3:c.1939G>A , LRG_572t1:c.1939G>A | NP_000304.2:p.Val647Ile | |
| NM_001314077.1:c.2035G>A , LRG_572t2:c.2035G>A | NP_001301006.1:p.Val679Ile | |
| NM_000313.4:c.1939G>A MANE Select | NP_000304.2:p.Val647Ile | |
| NM_001314077.2:c.2035G>A | NP_001301006.1:p.Val679Ile |