Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.101451808T>C , CM000673.2:g.101451808T>C | GRCh38 |
| NC_000011.9:g.101322539T>C , CM000673.1:g.101322539T>C | GRCh37 |
| NC_000011.8:g.100827749T>C | NCBI36 |
| NG_011476.1:g.137121A>G | |
| NG_011476.2:g.137121A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344327.8:c.*1147A>G MANE Select | ENSP00000340913.3:n.*1147A>G | |
| ENST00000344327.7:c.*1147A>G | ENSP00000340913.3:n.*1147A>G | |
| NM_004621.5:c.*1147A>G | NP_004612.2:n.*1147A>G | |
| XR_947953.1:n.2700T>C | ||
| XM_011542968.3:c.*1147A>G | XP_011541270.1:n.*1147A>G | |
| XM_017018221.2:c.*1147A>G | XP_016873710.1:n.*1147A>G | |
| XR_001747948.2:n.4300A>G | ||
| NM_004621.6:c.*1147A>G MANE Select | NP_004612.2:n.*1147A>G |