Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.142872409C>T , CM000669.2:g.142872409C>T | GRCh38 |
| NC_000007.13:g.142570162C>T , CM000669.1:g.142570162C>T | GRCh37 |
| NC_000007.12:g.142280284C>T | NCBI36 |
| NG_050669.1:g.18337G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359396.9:c.1978G>A MANE Select | ENSP00000352358.5:p.Gly660Arg | |
| ENST00000359396.7:c.1978G>A | ENSP00000352358.4:p.Gly660Arg | |
| ENST00000463646.5:c.1471G>A | ENSP00000479084.1:p.Gly491Arg | |
| ENST00000485138.5:n.1588G>A | ||
| ENST00000615386.4:n.9619G>A | ||
| NM_018646.5:c.1978G>A | NP_061116.5:p.Gly660Arg | |
| NM_018646.6:c.1978G>A MANE Select | NP_061116.5:p.Gly660Arg |