Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.24956099G>C , CM000670.2:g.24956099G>C | GRCh38 |
| NC_000008.10:g.24813613G>C , CM000670.1:g.24813613G>C | GRCh37 |
| NC_000008.9:g.24869530G>C | NCBI36 |
| NG_008492.1:g.5519C>G , LRG_259:g.5519C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006158.5:c.417C>G MANE Select | NP_006149.2:p.Tyr139Ter |
| ENST00000610854.2:c.417C>G MANE Select | ENSP00000482169.2:p.Tyr139Ter |
| NM_006158.4:c.417C>G , LRG_259t1:c.417C>G | NP_006149.2:p.Tyr139Ter |
| ENST00000610854.1:c.417C>G | ENSP00000482169.1:p.Tyr139Ter |
| ENST00000615973.1:n.623C>G | |
| ENST00000619417.1:c.417C>G | ENSP00000483690.1:p.Tyr139Ter |