Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88007711C>A , CM000666.2:g.88007711C>A | GRCh38 |
| NC_000004.11:g.88928863C>A , CM000666.1:g.88928863C>A | GRCh37 |
| NC_000004.10:g.89147887C>A | NCBI36 |
| NG_008604.1:g.5044C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237596.7:c.-23C>A MANE Select | ENSP00000237596.2:n.-23C>A | |
| ENST00000237596.6:c.-23C>A | ENSP00000237596.2:n.-23C>A | |
| NM_000297.3:c.-23C>A | NP_000288.1:n.-23C>A | |
| XM_011532028.1:c.-23C>A | XP_011530330.1:n.-23C>A | |
| XR_244632.2:n.73C>A | ||
| NR_156488.1:n.65C>A | ||
| XM_011532028.2:c.-23C>A | XP_011530330.1:n.-23C>A | |
| NM_000297.4:c.-23C>A MANE Select | NP_000288.1:n.-23C>A | |
| NR_156488.2:n.77C>A |