Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.41268382T>C , CM000666.2:g.41268382T>C | GRCh38 |
| NC_000004.11:g.41270399T>C , CM000666.1:g.41270399T>C | GRCh37 |
| NC_000004.10:g.40965156T>C | NCBI36 |
| NG_012931.1:g.16502T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004181.5:c.*309T>C MANE Select | NP_004172.2:n.*309T>C |
| ENST00000284440.9:c.*309T>C MANE Select | ENSP00000284440.4:n.*309T>C |
| NM_004181.4:c.*309T>C | NP_004172.2:n.*309T>C |
| ENST00000284440.8:c.*309T>C | ENSP00000284440.4:n.*309T>C |
| ENST00000381760.8:n.1532T>C | |
| ENST00000472501.5:n.1505T>C | |
| ENST00000512419.5:c.*770T>C | ENSP00000425714.1:n.*770T>C |
| ENST00000514764.5:n.815T>C |