HGVS | Genome Assembly |
---|---|
NC_000019.10:g.3586949T>G , CM000681.2:g.3586949T>G | GRCh38 |
NC_000019.9:g.3586947T>G , CM000681.1:g.3586947T>G | GRCh37 |
NC_000019.8:g.3537947T>G | NCBI36 |
NG_031943.1:g.6379T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000644452.3:c.547T>G MANE Select | ENSP00000493901.2:p.Ser183Ala | |
ENST00000644946.1:c.547T>G | ENSP00000495068.1:p.Ser183Ala | |
ENST00000322315.5:c.547T>G | ENSP00000319254.5:p.Ser183Ala | |
NM_133261.2:c.547T>G | NP_573568.1:p.Ser183Ala | |
XM_005259492.2:c.547T>G | XP_005259549.1:p.Ser183Ala | |
XM_005259492.3:c.547T>G | XP_005259549.1:p.Ser183Ala | |
NM_133261.3:c.547T>G MANE Select | NP_573568.1:p.Ser183Ala |