dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52781889T>G , CM000665.2:g.52781889T>G | GRCh38 |
| NC_000003.11:g.52815905T>G , CM000665.1:g.52815905T>G | GRCh37 |
| NC_000003.10:g.52790945T>G | NCBI36 |
| NG_016005.1:g.9298T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000273283.7:c.688-51T>G MANE Select | ENSP00000273283.2:n.688-51T>G | |
| ENST00000273283.6:c.688-51T>G | ENSP00000273283.2:n.688-51T>G | |
| ENST00000478667.5:n.174-51T>G | ||
| ENST00000487686.5:n.288-51T>G | ||
| ENST00000494603.1:n.267-51T>G | ||
| ENST00000537050.5:c.-177-51T>G | ENSP00000443847.1:n.-177-51T>G | |
| ENST00000628722.2:n.543-51T>G | ||
| NM_001166434.2:c.262-51T>G | NP_001159906.1:n.262-51T>G | |
| NM_001166435.2:c.-177-51T>G | NP_001159907.1:n.-177-51T>G | |
| NM_001166436.2:c.-177-51T>G | NP_001159908.1:n.-177-51T>G | |
| NM_002215.3:c.688-51T>G | NP_002206.2:n.688-51T>G | |
| NM_002215.4:c.688-51T>G MANE Select | NP_002206.2:n.688-51T>G | |
| NM_001166434.3:c.262-51T>G | NP_001159906.1:n.262-51T>G |