HGVS | Genome Assembly |
---|---|
NC_000002.12:g.189010682T>C , CM000664.2:g.189010682T>C | GRCh38 |
NC_000002.11:g.189875408T>C , CM000664.1:g.189875408T>C | GRCh37 |
NC_000002.10:g.189583653T>C | NCBI36 |
NG_007404.1:g.41310T>C , LRG_3:g.41310T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000450867.2:c.3947T>C | ENSP00000415346.2:p.Val1316Ala | |
ENST00000304636.9:c.4046T>C MANE Select | ENSP00000304408.4:p.Val1349Ala | |
ENST00000304636.7:c.4046T>C | ENSP00000304408.3:p.Val1349Ala | |
ENST00000317840.9:c.3137T>C | ENSP00000315243.6:p.Val1046Ala | |
ENST00000487010.1:n.1425T>C | ||
NM_000090.3:c.4046T>C , LRG_3t1:c.4046T>C | NP_000081.1:p.Val1349Ala | |
NM_000090.4:c.4046T>C MANE Select | NP_000081.2:p.Val1349Ala |