Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.49993774G>T , CM000679.2:g.49993774G>T | GRCh38 |
| NC_000017.10:g.48071138G>T , CM000679.1:g.48071138G>T | GRCh37 |
| NC_000017.9:g.45426137G>T | NCBI36 |
| NG_023063.1:g.6451C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005220.3:c.326-184C>A MANE Select | NP_005211.1:n.326-184C>A |
| ENST00000434704.2:c.326-184C>A MANE Select | ENSP00000389870.2:n.326-184C>A |
| NM_005220.2:c.326-184C>A | NP_005211.1:n.326-184C>A |
| XM_011524458.1:c.326-184C>A | XP_011522760.1:n.326-184C>A |