Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.119873381C>T , CM000685.2:g.119873381C>T | GRCh38 |
| NC_000023.10:g.119007344C>T , CM000685.1:g.119007344C>T | GRCh37 |
| NC_000023.9:g.118891372C>T | NCBI36 |
| NG_009381.1:g.6611C>T | |
| NG_021227.1:g.3448G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004541.4:c.180C>T MANE Select | NP_004532.1:p.Tyr60= |
| ENST00000371437.5:c.180C>T MANE Select | ENSP00000360492.4:p.Tyr60= |
| NM_004541.3:c.180C>T | NP_004532.1:p.Tyr60= |
| ENST00000371437.4:c.180C>T | ENSP00000360492.4:p.Tyr60= |