Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.101452425A>G , CM000673.2:g.101452425A>G | GRCh38 |
| NC_000011.9:g.101323156A>G , CM000673.1:g.101323156A>G | GRCh37 |
| NC_000011.8:g.100828366A>G | NCBI36 |
| NG_011476.1:g.136504T>C | |
| NG_011476.2:g.136504T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344327.8:c.*530T>C MANE Select | ENSP00000340913.3:n.*530T>C | |
| ENST00000344327.7:c.*530T>C | ENSP00000340913.3:n.*530T>C | |
| NM_004621.5:c.*530T>C | NP_004612.2:n.*530T>C | |
| XM_006718898.2:c.*530T>C | XP_006718961.1:n.*530T>C | |
| XM_011542968.1:c.*530T>C | XP_011541270.1:n.*530T>C | |
| XR_947953.1:n.3317A>G | ||
| XM_011542968.3:c.*530T>C | XP_011541270.1:n.*530T>C | |
| XM_017018221.2:c.*530T>C | XP_016873710.1:n.*530T>C | |
| XR_001747948.2:n.3683T>C | ||
| NM_004621.6:c.*530T>C MANE Select | NP_004612.2:n.*530T>C |