Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.120927961G>C , CM000671.2:g.120927961G>C | GRCh38 |
| NC_000009.11:g.123690239G>C , CM000671.1:g.123690239G>C | GRCh37 |
| NC_000009.10:g.122730060G>C | NCBI36 |
| NG_023346.1:g.6213C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001190945.1:c.-366+1153C>G | NP_001177874.1:n.-366+1153C>G |
| NM_001190945.2:c.-366+1153C>G | NP_001177874.1:n.-366+1153C>G |
| ENST00000373887.7:c.-1638C>G | ENSP00000362994.3:n.-1638C>G |
| ENST00000540010.1:c.-366+1153C>G | ENSP00000443183.1:n.-366+1153C>G |