Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32115523A>C , CM000668.2:g.32115523A>C | GRCh38 |
| NC_000006.11:g.32083300A>C , CM000668.1:g.32083300A>C | GRCh37 |
| NC_000006.10:g.32191278A>C | NCBI36 |
| NG_033940.1:g.17718T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375203.8:c.*216T>G MANE Select | ENSP00000364349.3:n.*216T>G | |
| ENST00000453203.2:c.*467T>G | ENSP00000393419.2:n.*467T>G | |
| ENST00000375201.8:c.*216T>G | ENSP00000364347.4:n.*216T>G | |
| ENST00000375203.7:c.*216T>G | ENSP00000364349.3:n.*216T>G | |
| ENST00000494022.1:n.289+1181T>G | ||
| NM_001136153.1:c.*216T>G | NP_001129625.1:n.*216T>G | |
| NM_004381.4:c.*216T>G | NP_004372.3:n.*216T>G | |
| NM_004381.5:c.*216T>G MANE Select | NP_004372.3:n.*216T>G | |
| NM_001136153.2:c.*216T>G | NP_001129625.1:n.*216T>G |