Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6451887C>T , CM000679.2:g.6451887C>T | GRCh38 |
| NC_000017.10:g.6355207C>T , CM000679.1:g.6355207C>T | GRCh37 |
| NC_000017.9:g.6295931C>T | NCBI36 |
| NG_016020.1:g.109671G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_031220.4:c.*3451G>A MANE Select | NP_112497.2:n.*3451G>A |
| ENST00000262483.13:c.*3451G>A MANE Select | ENSP00000262483.8:n.*3451G>A |
| NM_001165966.1:c.*3451G>A | NP_001159438.1:n.*3451G>A |
| NM_001165966.2:c.*3451G>A | NP_001159438.1:n.*3451G>A |
| NM_031220.3:c.*3451G>A | NP_112497.2:n.*3451G>A |
| ENST00000262483.12:c.*3451G>A | ENSP00000262483.8:n.*3451G>A |
| ENST00000421306.7:c.*3451G>A | ENSP00000407882.3:n.*3451G>A |
| XM_011524014.1:c.2620-1460G>A | XP_011522316.1:n.2620-1460G>A |