Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169541314G>T , CM000663.2:g.169541314G>T | GRCh38 |
| NC_000001.10:g.169510552G>T , CM000663.1:g.169510552G>T | GRCh37 |
| NC_000001.9:g.167777176G>T | NCBI36 |
| NG_011806.1:g.50218C>A , LRG_553:g.50218C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000130.5:c.3776C>A MANE Select | NP_000121.2:p.Ser1259Tyr |
| ENST00000367797.9:c.3776C>A MANE Select | ENSP00000356771.3:p.Ser1259Tyr |
| NM_000130.4:c.3776C>A , LRG_553t1:c.3776C>A | NP_000121.2:p.Ser1259Tyr |
| ENST00000367796.3:c.3791C>A | ENSP00000356770.3:p.Ser1264Tyr |
| ENST00000367797.7:c.3776C>A | ENSP00000356771.3:p.Ser1259Tyr |
| XM_017000660.2:c.3365C>A | XP_016856149.1:p.Ser1122Tyr |