Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.50915799A>G , CM000685.2:g.50915799A>G | GRCh38 |
| NC_000023.10:g.50658799A>G , CM000685.1:g.50658799A>G | GRCh37 |
| NC_000023.9:g.50675539A>G | NCBI36 |
| NG_012894.1:g.10016A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252677.4:c.371A>G MANE Select | ENSP00000252677.3:p.Asn124Ser | |
| ENST00000252677.3:c.371A>G | ENSP00000252677.3:p.Asn124Ser | |
| NM_005448.2:c.371A>G MANE Select | NP_005439.2:p.Asn124Ser |