Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.240542700T>C , CM000663.2:g.240542700T>C | GRCh38 |
| NC_000001.10:g.240706000T>C , CM000663.1:g.240706000T>C | GRCh37 |
| NC_000001.9:g.238772623T>C | NCBI36 |
| NG_053136.1:g.74673A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318160.5:c.-1-49224A>G MANE Select | ENSP00000318650.4:n.-1-49224A>G | |
| ENST00000318160.4:c.-1-49224A>G | ENSP00000318650.4:n.-1-49224A>G | |
| NM_022469.3:c.-1-49224A>G | NP_071914.3:n.-1-49224A>G | |
| XM_011544249.1:c.-121-45103A>G | XP_011542551.1:n.-121-45103A>G | |
| XM_011544249.2:c.-121-45103A>G | XP_011542551.1:n.-121-45103A>G | |
| NM_022469.4:c.-1-49224A>G MANE Select | NP_071914.3:n.-1-49224A>G |