Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.45910065T>C , CM000673.2:g.45910065T>C | GRCh38 |
| NC_000011.9:g.45931616T>C , CM000673.1:g.45931616T>C | GRCh37 |
| NC_000011.8:g.45888192T>C | NCBI36 |
| NG_008460.1:g.13059A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378750.10:c.*189A>G MANE Select | ENSP00000368024.5:n.*189A>G | |
| ENST00000241041.7:c.*24A>G | ENSP00000241041.3:n.*24A>G | |
| NM_004813.2:c.*189A>G | NP_004804.1:n.*189A>G | |
| NM_057174.2:c.*24A>G | NP_476515.1:n.*24A>G | |
| NM_004813.3:c.*189A>G | NP_004804.1:n.*189A>G | |
| NM_004813.4:c.*189A>G MANE Select | NP_004804.2:n.*189A>G | |
| NM_057174.3:c.*24A>G | NP_476515.2:n.*24A>G |