Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.41268323T>C , CM000666.2:g.41268323T>C | GRCh38 |
| NC_000004.11:g.41270340T>C , CM000666.1:g.41270340T>C | GRCh37 |
| NC_000004.10:g.40965097T>C | NCBI36 |
| NG_012931.1:g.16443T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004181.5:c.*250T>C MANE Select | NP_004172.2:n.*250T>C |
| ENST00000284440.9:c.*250T>C MANE Select | ENSP00000284440.4:n.*250T>C |
| NM_004181.4:c.*250T>C | NP_004172.2:n.*250T>C |
| ENST00000284440.8:c.*250T>C | ENSP00000284440.4:n.*250T>C |
| ENST00000381760.8:n.1473T>C | |
| ENST00000472501.5:n.1446T>C | |
| ENST00000512419.5:c.*711T>C | ENSP00000425714.1:n.*711T>C |
| ENST00000514764.5:n.756T>C |