Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.216205773T= , CM000664.2:g.216205773T= | GRCh38 |
| NC_000002.11:g.217070496T= , CM000664.1:g.217070496T= | GRCh37 |
| NC_000002.10:g.216778741T= | NCBI36 |
| NG_029780.1:g.101477T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392132.7:c.*571T= MANE Select | ENSP00000375977.2:n.*571T= | |
| ENST00000392132.6:c.*571T= | ENSP00000375977.2:n.*571T= | |
| ENST00000392133.7:c.*571T= | ENSP00000375978.3:n.*571T= | |
| NM_021141.3:c.*571T= | NP_066964.1:n.*571T= | |
| NM_021141.4:c.*571T= MANE Select | NP_066964.1:n.*571T= |