Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42704599G>T , CM000668.2:g.42704599G>T | GRCh38 |
| NC_000006.11:g.42672337G>T , CM000668.1:g.42672337G>T | GRCh37 |
| NC_000006.10:g.42780315G>T | NCBI36 |
| NG_009176.1:g.23022C>A | |
| NG_009176.2:g.23022C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000322.5:c.594C>A MANE Select | NP_000313.2:p.Ser198Arg |
| ENST00000230381.7:c.594C>A MANE Select | ENSP00000230381.5:p.Ser198Arg |
| NM_000322.4:c.594C>A | NP_000313.2:p.Ser198Arg |
| ENST00000230381.6:c.594C>A | ENSP00000230381.5:p.Ser198Arg |
| XR_427834.2:n.1249C>A | |
| XR_427834.4:n.1299C>A | |
| XR_926295.1:n.1431C>A | |
| XR_926295.3:n.1481C>A |