Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.4912499G>C , CM000674.2:g.4912499G>C | GRCh38 |
| NC_000012.11:g.5021665G>C , CM000674.1:g.5021665G>C | GRCh37 |
| NC_000012.10:g.4891926G>C | NCBI36 |
| NG_011815.1:g.7593G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382545.5:c.1121G>C MANE Select | ENSP00000371985.3:p.Gly374Ala | |
| ENST00000543874.3:n.105+2027G>C | ||
| ENST00000639306.1:c.959G>C | ENSP00000492506.1:p.Gly320Ala | |
| ENST00000639680.1:c.76+233G>C | ||
| ENST00000382545.3:c.1121G>C | ENSP00000371985.3:p.Gly374Ala | |
| ENST00000541095.1:n.105+2027G>C | ||
| ENST00000543874.2:n.96+2027G>C | ||
| NM_000217.2:c.1121G>C | NP_000208.2:p.Gly374Ala | |
| NM_000217.3:c.1121G>C MANE Select | NP_000208.2:p.Gly374Ala |