HGVS | Genome Assembly |
---|---|
NC_000002.12:g.38071170A>C , CM000664.2:g.38071170A>C | GRCh38 |
NC_000002.11:g.38298313A>C , CM000664.1:g.38298313A>C | GRCh37 |
NC_000002.10:g.38151817A>C | NCBI36 |
NG_008386.2:g.9932T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000490576.2:c.1184T>G | ENSP00000478839.2:p.Val395Gly | |
ENST00000610745.5:c.1184T>G MANE Select | ENSP00000478561.1:p.Val395Gly | |
ENST00000492443.1:n.562T>G | ||
ENST00000494864.1:c.71T>G | ENSP00000479876.1:p.Val24Gly | |
ENST00000610745.4:c.1184T>G | ENSP00000478561.1:p.Val395Gly | |
ENST00000614273.1:c.1184T>G | ENSP00000483678.1:p.Val395Gly | |
NM_000104.3:c.1184T>G | NP_000095.2:p.Val395Gly | |
NM_000104.4:c.1184T>G MANE Select | NP_000095.2:p.Val395Gly |