Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18175375A>G , CM000681.2:g.18175375A>G | GRCh38 |
| NC_000019.9:g.18286185A>G , CM000681.1:g.18286185A>G | GRCh37 |
| NC_000019.8:g.18147185A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000407280.4:c.380A>G MANE Select | ENSP00000384886.1:p.Asn127Ser | |
| ENST00000407280.3:c.380A>G | ENSP00000384886.1:p.Asn127Ser | |
| ENST00000593731.1:c.*1816A>G | ENSP00000471914.1:n.*1816A>G | |
| ENST00000600463.1:n.1119A>G | ||
| NM_006332.4:c.380A>G | NP_006323.2:p.Asn127Ser | |
| NM_006332.5:c.380A>G MANE Select | NP_006323.2:p.Asn127Ser |