Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186673926A>C , CM000663.2:g.186673926A>C | GRCh38 |
| NC_000001.10:g.186643058A>C , CM000663.1:g.186643058A>C | GRCh37 |
| NC_000001.9:g.184909681A>C | NCBI36 |
| NG_028206.2:g.11502T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367468.10:c.*427T>G MANE Select | ENSP00000356438.5:n.*427T>G | |
| ENST00000680451.1:c.*427T>G | ENSP00000506242.1:n.*427T>G | |
| ENST00000681605.1:c.*1914T>G | ENSP00000504900.1:n.*1914T>G | |
| ENST00000367468.9:c.*427T>G | ENSP00000356438.5:n.*427T>G | |
| ENST00000490885.6:n.2657T>G | ||
| NM_000963.3:c.*427T>G | NP_000954.1:n.*427T>G | |
| NM_000963.4:c.*427T>G MANE Select | NP_000954.1:n.*427T>G |