HGVS | Genome Assembly |
---|---|
NC_000020.11:g.23637697C>G , CM000682.2:g.23637697C>G | GRCh38 |
NC_000020.10:g.23618334C>G , CM000682.1:g.23618334C>G | GRCh37 |
NC_000020.9:g.23566334C>G | NCBI36 |
NG_012887.2:g.5241G>C | |
NG_012887.3:g.5241G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376925.8:c.166G>C MANE Select | ENSP00000366124.3:p.Ala56Pro | |
ENST00000376925.7:c.166G>C | ENSP00000366124.3:p.Ala56Pro | |
ENST00000398409.1:c.166G>C | ENSP00000381446.1:p.Ala56Pro | |
ENST00000398411.5:c.166G>C | ENSP00000381448.1:p.Ala56Pro | |
NM_000099.3:c.166G>C | NP_000090.1:p.Ala56Pro | |
NM_001288614.1:c.166G>C | NP_001275543.1:p.Ala56Pro | |
NM_000099.4:c.166G>C MANE Select | NP_000090.1:p.Ala56Pro | |
NM_001288614.2:c.166G>C | NP_001275543.1:p.Ala56Pro |