Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.79916743G>C , CM000668.2:g.79916743G>C | GRCh38 |
| NC_000006.11:g.80626460G>C , CM000668.1:g.80626460G>C | GRCh37 |
| NC_000006.10:g.80683179G>C | NCBI36 |
| NG_009108.1:g.35856C>G | |
| NG_009108.2:g.35856C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_022726.4:c.810C>G MANE Select | NP_073563.1:p.Tyr270Ter |
| ENST00000369816.5:c.810C>G MANE Select | ENSP00000358831.4:p.Tyr270Ter |
| NM_022726.3:c.810C>G | NP_073563.1:p.Tyr270Ter |
| ENST00000369816.4:c.810C>G | ENSP00000358831.4:p.Tyr270Ter |