Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240871442T>C , CM000664.2:g.240871442T>C | GRCh38 |
| NC_000002.11:g.241810859T>C , CM000664.1:g.241810859T>C | GRCh37 |
| NC_000002.10:g.241459532T>C | NCBI36 |
| NG_008005.1:g.7698T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000030.3:c.517T>C MANE Select | NP_000021.1:p.Cys173Arg |
| ENST00000307503.4:c.517T>C MANE Select | ENSP00000302620.3:p.Cys173Arg |
| NM_000030.2:c.517T>C | NP_000021.1:p.Cys173Arg |
| ENST00000307503.3:c.517T>C | ENSP00000302620.3:p.Cys173Arg |
| ENST00000472436.1:n.537T>C | |
| ENST00000476698.1:n.254T>C |