HGVS | Genome Assembly |
---|---|
NC_000005.10:g.135029023A>G , CM000667.2:g.135029023A>G | GRCh38 |
NC_000005.9:g.134364713A>G , CM000667.1:g.134364713A>G | GRCh37 |
NC_000005.8:g.134392612A>G | NCBI36 |
NG_012114.1:g.10252T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000265340.12:c.701T>C MANE Select | ENSP00000265340.6:p.Val234Ala | |
ENST00000265340.11:c.701T>C | ENSP00000265340.6:p.Val234Ala | |
ENST00000506438.5:c.701T>C | ENSP00000427542.1:p.Val234Ala | |
NM_002653.4:c.701T>C | NP_002644.4:p.Val234Ala | |
NM_002653.5:c.701T>C MANE Select | NP_002644.4:p.Val234Ala |