Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18787581C>G , CM000681.2:g.18787581C>G | GRCh38 |
| NC_000019.9:g.18898390C>G , CM000681.1:g.18898390C>G | GRCh37 |
| NC_000019.8:g.18759390C>G | NCBI36 |
| NG_007070.1:g.8725G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.1045G>C MANE Select | ENSP00000222271.2:p.Asp349His | |
| ENST00000222271.6:c.1045G>C | ENSP00000222271.2:p.Asp349His | |
| ENST00000425807.1:c.886G>C | ENSP00000403792.1:p.Asp296His | |
| ENST00000542601.6:c.946G>C | ENSP00000439156.2:p.Asp316His | |
| NM_000095.2:c.1045G>C | NP_000086.2:p.Asp349His | |
| NM_000095.3:c.1045G>C MANE Select | NP_000086.2:p.Asp349His |