Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3225482C>G , CM000668.2:g.3225482C>G | GRCh38 |
| NC_000006.11:g.3225716C>G , CM000668.1:g.3225716C>G | GRCh37 |
| NC_000006.10:g.3170715C>G | NCBI36 |
| NG_016715.1:g.7253G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259818.8:c.607G>C MANE Select | ENSP00000259818.6:p.Asp203His | |
| ENST00000680070.1:n.1537G>C | ||
| ENST00000681707.1:n.1434G>C | ||
| ENST00000681757.1:n.912G>C | ||
| ENST00000259818.7:c.607G>C | ENSP00000259818.6:p.Asp203His | |
| ENST00000473006.1:n.724G>C | ||
| NM_178012.4:c.607G>C | NP_821080.1:p.Asp203His | |
| XM_011514571.1:c.391G>C | XP_011512873.1:p.Asp131His | |
| NM_178012.5:c.607G>C MANE Select | NP_821080.1:p.Asp203His |