Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.154477492G>T , CM000667.2:g.154477492G>T | GRCh38 |
| NC_000005.9:g.153857052G>T , CM000667.1:g.153857052G>T | GRCh37 |
| NC_000005.8:g.153837245G>T | NCBI36 |
| NG_052889.1:g.5773C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000231121.3:c.517C>A MANE Select | ENSP00000231121.2:p.Arg173Ser | |
| ENST00000231121.2:c.517C>A | ENSP00000231121.2:p.Arg173Ser | |
| NM_004821.2:c.517C>A | NP_004812.1:p.Arg173Ser | |
| XM_005268531.1:c.517C>A | XP_005268588.1:p.Arg173Ser | |
| NM_004821.3:c.517C>A MANE Select | NP_004812.1:p.Arg173Ser |