HGVS | Genome Assembly |
---|---|
NC_000002.12:g.135789696A>G , CM000664.2:g.135789696A>G | GRCh38 |
NC_000002.11:g.136547266A>G , CM000664.1:g.136547266A>G | GRCh37 |
NC_000002.10:g.136263736A>G | NCBI36 |
NG_008104.2:g.70474T>C , LRG_338:g.70474T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264162.7:c.5438T>C MANE Select | ENSP00000264162.2:p.Val1813Ala | |
ENST00000264162.6:c.5438T>C | ENSP00000264162.2:p.Val1813Ala | |
NM_002299.2:c.5438T>C , LRG_338t1:c.5438T>C | NP_002290.2:p.Val1813Ala | |
NM_002299.3:c.5438T>C | NP_002290.2:p.Val1813Ala | |
NM_002299.4:c.5438T>C MANE Select | NP_002290.2:p.Val1813Ala |