Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31271251G>C , CM000668.2:g.31271251G>C | GRCh38 |
| NC_000006.11:g.31239028G>C , CM000668.1:g.31239028G>C | GRCh37 |
| NC_000006.10:g.31347007G>C | NCBI36 |
| NG_029422.2:g.5881C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376228.10:c.441C>G MANE Select | ENSP00000365402.5:p.Tyr147Ter | |
| ENST00000376228.9:c.441C>G | ENSP00000365402.5:p.Tyr147Ter | |
| ENST00000376237.8:c.*28C>G | ENSP00000365412.4:n.*28C>G | |
| ENST00000383329.7:c.441C>G | ENSP00000372819.3:p.Tyr147Ter | |
| ENST00000415537.1:c.439C>G | ||
| ENST00000484378.1:n.710C>G | ||
| ENST00000487245.5:n.800C>G | ||
| ENST00000495835.1:n.630C>G | ||
| NM_002117.5:c.441C>G | NP_002108.4:p.Tyr147Ter | |
| NM_002117.6:c.441C>G MANE Select | NP_002108.4:p.Tyr147Ter |