Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15197552A>C , CM000681.2:g.15197552A>C | GRCh38 |
| NC_000019.9:g.15308363A>C , CM000681.1:g.15308363A>C | GRCh37 |
| NC_000019.8:g.15169363A>C | NCBI36 |
| NG_009819.1:g.8430T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000435.3:c.145T>G MANE Select | NP_000426.2:p.Cys49Gly |
| ENST00000263388.7:c.145T>G MANE Select | ENSP00000263388.1:p.Cys49Gly |
| NM_000435.2:c.145T>G | NP_000426.2:p.Cys49Gly |
| ENST00000263388.6:c.145T>G | ENSP00000263388.1:p.Cys49Gly |
| ENST00000601011.1:c.142T>G | ENSP00000473138.1:p.Cys48Gly |
| XM_005259924.3:c.145T>G | XP_005259981.1:p.Cys49Gly |
| XM_005259924.4:c.145T>G | XP_005259981.1:p.Cys49Gly |