Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.101211603T>C , CM000669.2:g.101211603T>C | GRCh38 |
| NC_000007.13:g.100854884T>C , CM000669.1:g.100854884T>C | GRCh37 |
| NC_000007.12:g.100641604T>C | NCBI36 |
| NG_012148.1:g.11128A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001084.5:c.1346A>G MANE Select | NP_001075.1:p.Gln449Arg |
| ENST00000223127.8:c.1346A>G MANE Select | ENSP00000223127.3:p.Gln449Arg |
| NM_001084.4:c.1346A>G | NP_001075.1:p.Gln449Arg |
| ENST00000223127.7:c.1346A>G | ENSP00000223127.3:p.Gln449Arg |
| ENST00000421736.1:c.718A>G | |
| ENST00000440925.1:c.184A>G | |
| ENST00000454310.5:c.70A>G | |
| ENST00000463479.1:n.206A>G | |
| ENST00000478082.5:n.1546A>G |