Linked Data
dbSNP Id:
rs771973896
gnomAD v2:
12-80849528-G-T
gnomAD v3:
12-80460649-C-A
gnomAD v4:
12-80460649-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.80460649C>A , CM000674.2:g.80460649C>A | GRCh38 |
| NC_000012.11:g.80849528G>T , CM000674.1:g.80849528G>T | GRCh37 |
| NC_000012.10:g.79373659G>T | NCBI36 |
| NG_034052.1:g.21304C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644991.3:c.661-4C>A MANE Select | ENSP00000495607.1:n.661-4C>A | |
| ENST00000614701.4:c.661-4C>A | ENSP00000482885.1:n.661-4C>A | |
| ENST00000616559.4:c.787-4C>A | ENSP00000483259.1:n.787-4C>A | |
| NM_001145026.1:c.661-4C>A | NP_001138498.1:n.661-4C>A | |
| XM_011538290.1:c.661-4C>A | XP_011536592.1:n.661-4C>A | |
| XM_017019273.1:c.1327-4C>A | XP_016874762.1:n.1327-4C>A | |
| XM_017019274.1:c.1327-4C>A | XP_016874763.1:n.1327-4C>A | |
| XM_017019275.1:c.1327-4C>A | XP_016874764.1:n.1327-4C>A | |
| XR_001748688.1:n.1464-4C>A | ||
| XR_001748689.1:n.1464-4C>A | ||
| NM_001145026.2:c.661-4C>A MANE Select | NP_001138498.1:n.661-4C>A |