Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68438275C>T , CM000663.2:g.68438275C>T | GRCh38 |
| NC_000001.10:g.68903958C>T , CM000663.1:g.68903958C>T | GRCh37 |
| NC_000001.9:g.68676546C>T | NCBI36 |
| NG_008472.1:g.16685G>A | |
| NG_008472.2:g.16685G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000329.3:c.1040G>A MANE Select | NP_000320.1:p.Arg347His |
| ENST00000262340.6:c.1040G>A MANE Select | ENSP00000262340.5:p.Arg347His |
| NM_000329.2:c.1040G>A | NP_000320.1:p.Arg347His |
| ENST00000262340.5:c.1040G>A | ENSP00000262340.5:p.Arg347His |
| XM_017002027.1:c.764G>A | XP_016857516.1:p.Arg255His |