Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.129209348G>C , CM000669.2:g.129209348G>C | GRCh38 |
| NC_000007.13:g.128849189G>C , CM000669.1:g.128849189G>C | GRCh37 |
| NC_000007.12:g.128636425G>C | NCBI36 |
| NG_023340.1:g.25477G>C | |
| NG_023340.2:g.25477G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005631.5:c.1417G>C MANE Select | NP_005622.1:p.Asp473His |
| ENST00000249373.8:c.1417G>C MANE Select | ENSP00000249373.3:p.Asp473His |
| NM_005631.4:c.1417G>C | NP_005622.1:p.Asp473His |
| ENST00000249373.7:c.1417G>C | ENSP00000249373.3:p.Asp473His |
| ENST00000462420.2:c.437+497G>C | |
| ENST00000655644.1:c.*1221+497G>C | ENSP00000499377.1:n.*1221+497G>C |
| XM_011516522.1:c.1027G>C | XP_011514824.1:p.Asp343His |
| XM_024446891.1:c.1027G>C | XP_024302659.1:p.Asp343His |