Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29073911C>G , CM000664.2:g.29073911C>G | GRCh38 |
| NC_000002.11:g.29296777C>G , CM000664.1:g.29296777C>G | GRCh37 |
| NC_000002.10:g.29150281C>G | NCBI36 |
| NG_021427.1:g.5351G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001029883.3:c.351G>C MANE Select | NP_001025054.1:p.Lys117Asn |
| ENST00000331664.6:c.351G>C MANE Select | ENSP00000332809.4:p.Lys117Asn |
| NM_001029883.2:c.351G>C | NP_001025054.1:p.Lys117Asn |
| ENST00000331664.5:c.351G>C | ENSP00000332809.4:p.Lys117Asn |
| XM_011532826.1:c.351G>C | XP_011531128.1:p.Lys117Asn |
| XR_939901.1:n.185+4744C>G | |
| XR_939902.1:n.173+4756C>G |