HGVS | Genome Assembly |
---|---|
NC_000002.12:g.38070960A>G , CM000664.2:g.38070960A>G | GRCh38 |
NC_000002.11:g.38298103A>G , CM000664.1:g.38298103A>G | GRCh37 |
NC_000002.10:g.38151607A>G | NCBI36 |
NG_008386.2:g.10142T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000490576.2:c.1394T>C | ENSP00000478839.2:p.Val465Ala | |
ENST00000610745.5:c.1394T>C MANE Select | ENSP00000478561.1:p.Val465Ala | |
ENST00000494864.1:c.281T>C | ENSP00000479876.1:p.Val94Ala | |
ENST00000610745.4:c.1394T>C | ENSP00000478561.1:p.Val465Ala | |
ENST00000614273.1:c.1394T>C | ENSP00000483678.1:p.Val465Ala | |
NM_000104.3:c.1394T>C | NP_000095.2:p.Val465Ala | |
NM_000104.4:c.1394T>C MANE Select | NP_000095.2:p.Val465Ala |