Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.96160524C>G , CM000670.2:g.96160524C>G | GRCh38 |
| NC_000008.10:g.97172752C>G , CM000670.1:g.97172752C>G | GRCh37 |
| NC_000008.9:g.97241928C>G | NCBI36 |
| NG_008981.1:g.5269G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001001557.4:c.169G>C MANE Select | NP_001001557.1:p.Asp57His |
| ENST00000287020.7:c.169G>C MANE Select | ENSP00000287020.4:p.Asp57His |
| NM_001001557.2:c.169G>C | NP_001001557.1:p.Asp57His |
| NM_001001557.3:c.169G>C | NP_001001557.1:p.Asp57His |
| ENST00000287020.6:c.169G>C | ENSP00000287020.4:p.Asp57His |
| ENST00000620978.1:c.169G>C | ENSP00000480170.1:p.Asp57His |
| ENST00000621429.1:c.169G>C | ENSP00000483711.1:p.Asp57His |