dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.120928014G>A , CM000671.2:g.120928014G>A | GRCh38 |
| NC_000009.11:g.123690292G>A , CM000671.1:g.123690292G>A | GRCh37 |
| NC_000009.10:g.122730113G>A | NCBI36 |
| NG_023346.1:g.6160C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373887.7:c.-1691C>T | ENSP00000362994.3:n.-1691C>T | |
| ENST00000540010.1:c.-366+1100C>T | ENSP00000443183.1:n.-366+1100C>T | |
| NM_001190945.1:c.-366+1100C>T | NP_001177874.1:n.-366+1100C>T | |
| NM_001190945.2:c.-366+1100C>T | NP_001177874.1:n.-366+1100C>T |