Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.210188340C>T , CM000664.2:g.210188340C>T | GRCh38 |
| NC_000002.11:g.211053064C>T , CM000664.1:g.211053064C>T | GRCh37 |
| NC_000002.10:g.210761309C>T | NCBI36 |
| NG_008002.1:g.42152G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233710.4:c.*621G>A MANE Select | ENSP00000233710.3:n.*621G>A | |
| ENST00000652584.1:n.2142G>A | ||
| ENST00000233710.3:c.*621G>A | ENSP00000233710.3:n.*621G>A | |
| NM_001608.3:c.*621G>A | NP_001599.1:n.*621G>A | |
| XM_005246517.3:c.*621G>A | XP_005246574.1:n.*621G>A | |
| XM_005246517.4:c.*621G>A | XP_005246574.1:n.*621G>A | |
| XM_017003955.1:c.*621G>A | XP_016859444.1:n.*621G>A | |
| NM_001608.4:c.*621G>A MANE Select | NP_001599.1:n.*621G>A |