Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.79924970A>C , CM000668.2:g.79924970A>C | GRCh38 |
| NC_000006.11:g.80634687A>C , CM000668.1:g.80634687A>C | GRCh37 |
| NC_000006.10:g.80691406A>C | NCBI36 |
| NG_009108.1:g.27629T>G | |
| NG_009108.2:g.27629T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_022726.4:c.351T>G MANE Select | NP_073563.1:p.Asn117Lys |
| ENST00000369816.5:c.351T>G MANE Select | ENSP00000358831.4:p.Asn117Lys |
| NM_022726.3:c.351T>G | NP_073563.1:p.Asn117Lys |
| ENST00000369816.4:c.351T>G | ENSP00000358831.4:p.Asn117Lys |