Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.49459168T>C , CM000668.2:g.49459168T>C | GRCh38 |
| NC_000006.11:g.49426881T>C , CM000668.1:g.49426881T>C | GRCh37 |
| NC_000006.10:g.49534840T>C | NCBI36 |
| NG_007100.1:g.8972A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000255.4:c.299A>G MANE Select | NP_000246.2:p.Tyr100Cys |
| ENST00000274813.4:c.299A>G MANE Select | ENSP00000274813.3:p.Tyr100Cys |
| NM_000255.3:c.299A>G | NP_000246.2:p.Tyr100Cys |
| ENST00000274813.3:c.299A>G | ENSP00000274813.3:p.Tyr100Cys |
| XM_005249143.2:c.299A>G | XP_005249200.1:p.Tyr100Cys |
| XM_005249143.3:c.299A>G | XP_005249200.1:p.Tyr100Cys |