Linked Data
dbSNP Id:
rs1336006234
gnomAD v2:
12-103310976-A-T
gnomAD v3:
12-102917198-A-T
gnomAD v4:
12-102917198-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102917198A>T , CM000674.2:g.102917198A>T | GRCh38 |
| NC_000012.11:g.103310976A>T , CM000674.1:g.103310976A>T | GRCh37 |
| NC_000012.10:g.101835106A>T | NCBI36 |
| NG_008690.1:g.5405T>A | |
| NG_008690.2:g.46213T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.-68T>A MANE Select | ENSP00000448059.1:n.-68T>A | |
| ENST00000307000.7:c.-215T>A | ENSP00000303500.2:n.-215T>A | |
| ENST00000546708.5:n.520T>A | ||
| ENST00000546844.1:c.-68T>A | ENSP00000446658.1:n.-68T>A | |
| ENST00000547319.1:n.244T>A | ||
| ENST00000549111.5:n.29T>A | ||
| ENST00000551337.5:c.-68T>A | ENSP00000447620.1:n.-68T>A | |
| ENST00000551988.5:n.22T>A | ||
| ENST00000553106.5:c.-68T>A | ENSP00000448059.1:n.-68T>A | |
| ENST00000635500.1:n.29-4300T>A | ||
| NM_000277.1:c.-68T>A | NP_000268.1:n.-68T>A | |
| XM_011538422.1:c.-68T>A | XP_011536724.1:n.-68T>A | |
| NM_000277.2:c.-68T>A | NP_000268.1:n.-68T>A | |
| NM_001354304.1:c.-68T>A | NP_001341233.1:n.-68T>A | |
| XM_017019370.2:c.-68T>A | XP_016874859.1:n.-68T>A | |
| NM_000277.3:c.-68T>A MANE Select | NP_000268.1:n.-68T>A | |
| NM_001354304.2:c.-68T>A | NP_001341233.1:n.-68T>A |