Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.120811696T>G , CM000670.2:g.120811696T>G | GRCh38 |
| NC_000008.10:g.121823936T>G , CM000670.1:g.121823936T>G | GRCh37 |
| NC_000008.9:g.121893117T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000517992.2:c.148A>C MANE Select | ENSP00000431124.1:p.Ser50Arg | |
| ENST00000648490.1:c.148A>C | ENSP00000497707.1:p.Ser50Arg | |
| ENST00000395601.7:c.148A>C | ENSP00000378965.3:p.Ser50Arg | |
| ENST00000517992.1:c.148A>C | ENSP00000431124.1:p.Ser50Arg | |
| NM_021021.3:c.148A>C | NP_066301.1:p.Ser50Arg | |
| XM_011517239.1:c.148A>C | XP_011515541.1:p.Ser50Arg | |
| XM_011517239.2:c.148A>C | XP_011515541.1:p.Ser50Arg | |
| NM_021021.4:c.148A>C MANE Select | NP_066301.1:p.Ser50Arg |