Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.49453721T>C , CM000668.2:g.49453721T>C | GRCh38 |
| NC_000006.11:g.49421434T>C , CM000668.1:g.49421434T>C | GRCh37 |
| NC_000006.10:g.49529393T>C | NCBI36 |
| NG_007100.1:g.14419A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000255.4:c.947A>G MANE Select | NP_000246.2:p.Tyr316Cys |
| ENST00000274813.4:c.947A>G MANE Select | ENSP00000274813.3:p.Tyr316Cys |
| NM_000255.3:c.947A>G | NP_000246.2:p.Tyr316Cys |
| ENST00000274813.3:c.947A>G | ENSP00000274813.3:p.Tyr316Cys |
| XM_005249143.2:c.947A>G | XP_005249200.1:p.Tyr316Cys |
| XM_005249143.3:c.947A>G | XP_005249200.1:p.Tyr316Cys |