Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15192414G>T , CM000681.2:g.15192414G>T | GRCh38 |
| NC_000019.9:g.15303225G>T , CM000681.1:g.15303225G>T | GRCh37 |
| NC_000019.8:g.15164225G>T | NCBI36 |
| NG_009819.1:g.13568C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000435.3:c.303C>A MANE Select | NP_000426.2:p.Thr101= |
| ENST00000263388.7:c.303C>A MANE Select | ENSP00000263388.1:p.Thr101= |
| NM_000435.2:c.303C>A | NP_000426.2:p.Thr101= |
| ENST00000263388.6:c.303C>A | ENSP00000263388.1:p.Thr101= |
| ENST00000601011.1:c.300C>A | ENSP00000473138.1:p.Thr100= |
| XM_005259924.3:c.303C>A | XP_005259981.1:p.Thr101= |
| XM_005259924.4:c.303C>A | XP_005259981.1:p.Thr101= |