Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15192209A>G , CM000681.2:g.15192209A>G | GRCh38 |
| NC_000019.9:g.15303020A>G , CM000681.1:g.15303020A>G | GRCh37 |
| NC_000019.8:g.15164020A>G | NCBI36 |
| NG_009819.1:g.13773T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263388.7:c.430T>C MANE Select | ENSP00000263388.1:p.Cys144Arg | |
| ENST00000263388.6:c.430T>C | ENSP00000263388.1:p.Cys144Arg | |
| ENST00000601011.1:c.427T>C | ENSP00000473138.1:p.Cys143Arg | |
| NM_000435.2:c.430T>C | NP_000426.2:p.Cys144Arg | |
| XM_005259924.3:c.430T>C | XP_005259981.1:p.Cys144Arg | |
| XM_005259924.4:c.430T>C | XP_005259981.1:p.Cys144Arg | |
| NM_000435.3:c.430T>C MANE Select | NP_000426.2:p.Cys144Arg |