Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58279553T>C , CM000679.2:g.58279553T>C | GRCh38 |
| NC_000017.10:g.56356914T>C , CM000679.1:g.56356914T>C | GRCh37 |
| NC_000017.9:g.53711913T>C | NCBI36 |
| NG_009629.1:g.6383A>G , LRG_84:g.6383A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000250.2:c.518A>G MANE Select | NP_000241.1:p.Tyr173Cys |
| ENST00000225275.4:c.518A>G MANE Select | ENSP00000225275.3:p.Tyr173Cys |
| NM_000250.1:c.518A>G , LRG_84t1:c.518A>G | NP_000241.1:p.Tyr173Cys |
| ENST00000225275.3:c.518A>G | ENSP00000225275.3:p.Tyr173Cys |
| XM_011524821.1:c.704A>G | XP_011523123.1:p.Tyr235Cys |
| XM_011524822.1:c.233A>G | XP_011523124.1:p.Tyr78Cys |
| XM_011524823.1:c.704A>G | XP_011523125.1:p.Tyr235Cys |