dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.37806545T>G , CM000684.2:g.37806545T>G | GRCh38 |
| NC_000022.10:g.38202552T>G , CM000684.1:g.38202552T>G | GRCh37 |
| NC_000022.9:g.36532498T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340857.4:c.*416T>G MANE Select | ENSP00000344504.2:n.*416T>G | |
| ENST00000340857.3:c.*416T>G | ENSP00000344504.2:n.*416T>G | |
| NM_005318.3:c.*416T>G | NP_005309.1:n.*416T>G | |
| NM_005318.4:c.*416T>G MANE Select | NP_005309.1:n.*416T>G |