HGVS | Genome Assembly |
---|---|
NC_000009.12:g.98541971A>C , CM000671.2:g.98541971A>C | GRCh38 |
NC_000009.11:g.101304253A>C , CM000671.1:g.101304253A>C | GRCh37 |
NC_000009.10:g.100344074A>C | NCBI36 |
NG_016426.1:g.172227T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000259455.4:c.532T>G MANE Select | ENSP00000259455.2:p.Ser178Ala | |
ENST00000637410.1:n.310T>G | ||
ENST00000637717.1:c.148T>G | ENSP00000490789.1:p.Ser50Ala | |
ENST00000259455.3:c.532T>G | ENSP00000259455.2:p.Ser178Ala | |
ENST00000477471.1:n.319T>G | ||
ENST00000634227.1:n.306T>G | ||
NM_005458.7:c.532T>G | NP_005449.5:p.Ser178Ala | |
XM_017015331.2:c.238T>G | XP_016870820.1:p.Ser80Ala | |
NM_005458.8:c.532T>G MANE Select | NP_005449.5:p.Ser178Ala |