HGVS | Genome Assembly |
---|---|
NC_000002.12:g.38074856A>G , CM000664.2:g.38074856A>G | GRCh38 |
NC_000002.11:g.38301999A>G , CM000664.1:g.38301999A>G | GRCh37 |
NC_000002.10:g.38155503A>G | NCBI36 |
NG_008386.2:g.6246T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000490576.2:c.533T>C | ENSP00000478839.2:p.Val178Ala | |
ENST00000610745.5:c.533T>C MANE Select | ENSP00000478561.1:p.Val178Ala | |
ENST00000494864.1:c.-70-3546T>C | ENSP00000479876.1:n.-70-3546T>C | |
ENST00000610745.4:c.533T>C | ENSP00000478561.1:p.Val178Ala | |
ENST00000613082.1:n.376-448T>C | ||
ENST00000614273.1:c.533T>C | ENSP00000483678.1:p.Val178Ala | |
NM_000104.3:c.533T>C | NP_000095.2:p.Val178Ala | |
NM_000104.4:c.533T>C MANE Select | NP_000095.2:p.Val178Ala |