HGVS | Genome Assembly |
---|---|
NC_000009.12:g.101424885T>G , CM000671.2:g.101424885T>G | GRCh38 |
NC_000009.11:g.104187167T>G , CM000671.1:g.104187167T>G | GRCh37 |
NC_000009.10:g.103226988T>G | NCBI36 |
NG_012387.1:g.15896A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000647789.2:c.957A>C MANE Select | ENSP00000497767.1:p.Ala319= | |
ENST00000648064.1:c.957A>C | ENSP00000497990.1:p.Ala319= | |
ENST00000648758.1:c.957A>C | ENSP00000497731.1:p.Ala319= | |
ENST00000649902.1:c.957A>C | ENSP00000497216.1:p.Ala319= | |
ENST00000374855.8:c.957A>C | ENSP00000363988.4:p.Ala319= | |
ENST00000616752.1:c.920A>C | ENSP00000481363.1:p.Gln307Pro | |
NM_000035.3:c.957A>C | NP_000026.2:p.Ala319= | |
NM_000035.4:c.957A>C MANE Select | NP_000026.2:p.Ala319= |