Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.54622189G>T , CM000670.2:g.54622189G>T | GRCh38 |
| NC_000008.10:g.55534749G>T , CM000670.1:g.55534749G>T | GRCh37 |
| NC_000008.9:g.55697302G>T | NCBI36 |
| NG_009840.1:g.11123G>T | |
| NG_009840.2:g.11123G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006269.2:c.688G>T MANE Select | NP_006260.1:p.Gly230Ter |
| ENST00000220676.2:c.688G>T MANE Select | ENSP00000220676.1:p.Gly230Ter |
| NM_001375654.1:c.688G>T | NP_001362583.1:p.Gly230Ter |
| NM_006269.1:c.688G>T | NP_006260.1:p.Gly230Ter |
| ENST00000220676.1:c.688G>T | ENSP00000220676.1:p.Gly230Ter |
| ENST00000636932.1:c.688G>T | ENSP00000489857.1:p.Gly230Ter |
| ENST00000637698.1:c.688G>T | ENSP00000490104.1:p.Gly230Ter |
| XM_017013721.1:c.709G>T | XP_016869210.1:p.Gly237Ter |
| XM_017013722.1:c.688G>T | XP_016869211.1:p.Gly230Ter |