Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55593043C>T , CM000681.2:g.55593043C>T | GRCh38 |
| NC_000019.9:g.56104409C>T , CM000681.1:g.56104409C>T | GRCh37 |
| NC_000019.8:g.60796221C>T | NCBI36 |
| NG_052830.1:g.13928G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_032836.3:c.898G>A MANE Select | NP_116225.2:p.Gly300Ser |
| ENST00000221665.5:c.898G>A MANE Select | ENSP00000221665.2:p.Gly300Ser |
| NM_032836.2:c.898G>A | NP_116225.2:p.Gly300Ser |
| ENST00000221665.4:c.898G>A | ENSP00000221665.2:p.Gly300Ser |
| XM_005259352.3:c.898G>A | XP_005259409.1:p.Gly300Ser |
| XM_005259352.4:c.898G>A | XP_005259409.1:p.Gly300Ser |
| XM_011527426.1:c.925G>A | XP_011525728.1:p.Gly309Ser |
| XM_011527426.2:c.925G>A | XP_011525728.1:p.Gly309Ser |
| XM_011527427.1:c.724G>A | XP_011525729.1:p.Gly242Ser |