Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49016011T>G , CM000681.2:g.49016011T>G | GRCh38 |
| NC_000019.9:g.49519268T>G , CM000681.1:g.49519268T>G | GRCh37 |
| NC_000019.8:g.54211080T>G | NCBI36 |
| NG_011464.1:g.6080A>C | |
| NG_033041.1:g.27113T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649238.3:c.*57A>C MANE Select | ENSP00000497294.2:n.*57A>C | |
| ENST00000221421.6:c.483A>C | ENSP00000221421.1:n.483A>C | |
| NM_000894.2:c.*57A>C | NP_000885.1:n.*57A>C | |
| XM_011526975.1:c.*57A>C | XP_011525277.1:n.*57A>C | |
| NM_000894.3:c.*57A>C MANE Select | NP_000885.1:n.*57A>C |