HGVS | Genome Assembly |
---|---|
NC_000009.12:g.101421862A>C , CM000671.2:g.101421862A>C | GRCh38 |
NC_000009.11:g.104184144A>C , CM000671.1:g.104184144A>C | GRCh37 |
NC_000009.10:g.103223965A>C | NCBI36 |
NG_012387.1:g.18919T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000647789.2:c.1042T>G MANE Select | ENSP00000497767.1:p.Ser348Ala | |
ENST00000648064.1:c.1042T>G | ENSP00000497990.1:p.Ser348Ala | |
ENST00000648758.1:c.1042T>G | ENSP00000497731.1:p.Ser348Ala | |
ENST00000374855.8:c.1042T>G | ENSP00000363988.4:p.Ser348Ala | |
ENST00000616752.1:c.*54T>G | ENSP00000481363.1:n.*54T>G | |
NM_000035.3:c.1042T>G | NP_000026.2:p.Ser348Ala | |
NM_000035.4:c.1042T>G MANE Select | NP_000026.2:p.Ser348Ala |