Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.7056658C>T , CM000670.2:g.7056658C>T | GRCh38 |
| NC_000008.10:g.6914180C>T , CM000670.1:g.6914180C>T | GRCh37 |
| NC_000008.9:g.6901590C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_021010.3:c.40G>A MANE Select | NP_066290.1:p.Ala14Thr |
| ENST00000330590.4:c.40G>A MANE Select | ENSP00000329890.2:p.Ala14Thr |
| NM_021010.2:c.40G>A | NP_066290.1:p.Ala14Thr |
| ENST00000330590.3:c.40G>A | ENSP00000329890.2:p.Ala14Thr |