Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215993103G>T , CM000663.2:g.215993103G>T | GRCh38 |
| NC_000001.10:g.216166445G>T , CM000663.1:g.216166445G>T | GRCh37 |
| NC_000001.9:g.214233068G>T | NCBI36 |
| NG_009497.1:g.435294C>A | |
| NG_009497.2:g.435346C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.6722C>A MANE Select | ENSP00000305941.3:p.Pro2241His | |
| ENST00000674083.1:c.6722C>A | ENSP00000501296.1:p.Pro2241His | |
| ENST00000307340.7:c.6722C>A | ENSP00000305941.3:p.Pro2241His | |
| NM_206933.2:c.6722C>A | NP_996816.2:p.Pro2241His | |
| NM_206933.3:c.6722C>A | NP_996816.2:p.Pro2241His | |
| NM_206933.4:c.6722C>A MANE Select | NP_996816.3:p.Pro2241His |