Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73640854T>C , CM000664.2:g.73640854T>C | GRCh38 |
| NC_000002.11:g.73867981T>C , CM000664.1:g.73867981T>C | GRCh37 |
| NC_000002.10:g.73721489T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272425.4:c.*91A>G MANE Select | ENSP00000272425.3:n.*91A>G | |
| ENST00000272425.3:c.*91A>G | ENSP00000272425.3:n.*91A>G | |
| NM_003960.3:c.*91A>G | NP_003951.3:n.*91A>G | |
| NM_003960.4:c.*91A>G MANE Select | NP_003951.3:n.*91A>G |