Linked Data
dbSNP Id:
rs772159852
ExAC:
12:103306586 C / T
gnomAD v2:
12-103306586-C-T
gnomAD v3:
12-102912808-C-T
gnomAD v4:
12-102912808-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102912808C>T , CM000674.2:g.102912808C>T | GRCh38 |
| NC_000012.11:g.103306586C>T , CM000674.1:g.103306586C>T | GRCh37 |
| NC_000012.10:g.101830716C>T | NCBI36 |
| NG_008690.1:g.9795G>A | |
| NG_008690.2:g.50603G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.151G>A MANE Select | ENSP00000448059.1:p.Val51Ile | |
| ENST00000307000.7:c.136G>A | ENSP00000303500.2:p.Val46Ile | |
| ENST00000546844.1:c.151G>A | ENSP00000446658.1:p.Val51Ile | |
| ENST00000548677.2:n.238G>A | ||
| ENST00000548928.1:n.73G>A | ||
| ENST00000549111.5:n.247G>A | ||
| ENST00000550978.6:c.135G>A | ||
| ENST00000551337.5:c.151G>A | ENSP00000447620.1:p.Val51Ile | |
| ENST00000551988.5:n.240G>A | ||
| ENST00000553106.5:c.151G>A | ENSP00000448059.1:p.Val51Ile | |
| ENST00000635500.1:n.119G>A | ||
| NM_000277.1:c.151G>A | NP_000268.1:p.Val51Ile | |
| XM_011538422.1:c.151G>A | XP_011536724.1:p.Val51Ile | |
| NM_000277.2:c.151G>A | NP_000268.1:p.Val51Ile | |
| NM_001354304.1:c.151G>A | NP_001341233.1:p.Val51Ile | |
| XM_017019370.2:c.151G>A | XP_016874859.1:p.Val51Ile | |
| NM_000277.3:c.151G>A MANE Select | NP_000268.1:p.Val51Ile | |
| NM_001354304.2:c.151G>A | NP_001341233.1:p.Val51Ile |