Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.39502920T>G , CM000681.2:g.39502920T>G | GRCh38 |
| NC_000019.9:g.39993560T>G , CM000681.1:g.39993560T>G | GRCh37 |
| NC_000019.8:g.44685400T>G | NCBI36 |
| NG_008256.1:g.9004T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356433.10:c.515T>G MANE Select | ENSP00000348810.4:p.Phe172Cys | |
| ENST00000205143.4:c.515T>G | ENSP00000205143.3:p.Phe172Cys | |
| ENST00000356433.9:c.515T>G | ENSP00000348810.4:p.Phe172Cys | |
| ENST00000596614.5:c.409+2248T>G | ENSP00000471688.1:n.409+2248T>G | |
| ENST00000600437.1:n.595T>G | ||
| NM_016941.3:c.515T>G | NP_058637.1:p.Phe172Cys | |
| NM_203486.2:c.515T>G | NP_982353.1:p.Phe172Cys | |
| NM_016941.4:c.515T>G | NP_058637.1:p.Phe172Cys | |
| NM_203486.3:c.515T>G MANE Select | NP_982353.1:p.Phe172Cys |