Linked Data
dbSNP Id:
rs1217080135
gnomAD v2:
12-56843973-C-T
gnomAD v3:
12-56450189-C-T
gnomAD v4:
12-56450189-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56450189C>T , CM000674.2:g.56450189C>T | GRCh38 |
| NC_000012.11:g.56843973C>T , CM000674.1:g.56843973C>T | GRCh37 |
| NC_000012.10:g.55130240C>T | NCBI36 |
| NG_021397.1:g.9463G>A | |
| NG_021397.2:g.23978G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648304.1:c.*1507G>A | ENSP00000497190.1:n.*1507G>A | |
| ENST00000652304.1:c.*1091G>A MANE Select | ENSP00000498622.1:n.*1091G>A | |
| ENST00000257979.4:c.*1091G>A | ENSP00000257979.4:n.*1091G>A | |
| NM_012064.3:c.*1091G>A | NP_036196.1:n.*1091G>A | |
| XM_011538354.1:c.*1091G>A | XP_011536656.1:n.*1091G>A | |
| NM_012064.4:c.*1091G>A MANE Select | NP_036196.1:n.*1091G>A | |
| XM_017019306.1:c.*1091G>A | XP_016874795.1:n.*1091G>A |