Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151316610T>C , CM000667.2:g.151316610T>C | GRCh38 |
| NC_000005.9:g.150696171T>C , CM000667.1:g.150696171T>C | GRCh37 |
| NC_000005.8:g.150676364T>C | NCBI36 |
| NG_027745.1:g.35981A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_181776.3:c.*207A>G MANE Select | NP_861441.2:n.*207A>G |
| ENST00000335244.9:c.*207A>G MANE Select | ENSP00000334223.4:n.*207A>G |
| NM_181776.2:c.*207A>G | NP_861441.2:n.*207A>G |
| ENST00000335244.8:c.*207A>G | ENSP00000334223.4:n.*207A>G |
| ENST00000518280.5:c.*1130A>G | ENSP00000428453.1:n.*1130A>G |
| ENST00000518617.5:c.*1227A>G | ENSP00000430149.1:n.*1227A>G |
| XM_017009084.1:c.*207A>G | XP_016864573.1:n.*207A>G |