HGVS | Genome Assembly |
---|---|
NC_000015.10:g.71811486T>C , CM000677.2:g.71811486T>C | GRCh38 |
NC_000015.9:g.72103826T>C , CM000677.1:g.72103826T>C | GRCh37 |
NC_000015.8:g.69890880T>C | NCBI36 |
NG_009113.2:g.5932T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000617575.5:c.122T>C MANE Select | ENSP00000482504.1:p.Val41Ala | |
ENST00000617575.4:c.122T>C | ENSP00000482504.1:p.Val41Ala | |
ENST00000621098.1:c.122T>C | ENSP00000479962.1:p.Val41Ala | |
ENST00000621736.4:c.-143T>C | ENSP00000479254.1:n.-143T>C | |
NM_014249.3:c.122T>C | NP_055064.1:p.Val41Ala | |
NM_016346.3:c.122T>C | NP_057430.1:p.Val41Ala | |
XM_011521146.1:c.-143T>C | XP_011519448.1:n.-143T>C | |
NM_014249.4:c.122T>C MANE Select | NP_055064.1:p.Val41Ala | |
NM_016346.4:c.122T>C | NP_057430.1:p.Val41Ala |