Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.80273533T>C , CM000672.2:g.80273533T>C | GRCh38 |
| NC_000010.10:g.82033289T>C , CM000672.1:g.82033289T>C | GRCh37 |
| NC_000010.9:g.82023269T>C | NCBI36 |
| NG_008083.1:g.21146A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372213.8:c.*248A>G MANE Select | ENSP00000361287.3:n.*248A>G | |
| ENST00000372213.7:c.*248A>G | ENSP00000361287.3:n.*248A>G | |
| ENST00000480845.1:n.620+48A>G | ||
| ENST00000485270.5:n.948A>G | ||
| NM_000429.2:c.*248A>G | NP_000420.1:n.*248A>G | |
| XM_005269842.3:c.*248A>G | XP_005269899.1:n.*248A>G | |
| XM_005269843.3:c.*248A>G | XP_005269900.1:n.*248A>G | |
| NM_000429.3:c.*248A>G MANE Select | NP_000420.1:n.*248A>G |