HGVS | Genome Assembly |
---|---|
NC_000002.12:g.135817402G>C , CM000664.2:g.135817402G>C | GRCh38 |
NC_000002.11:g.136574972G>C , CM000664.1:g.136574972G>C | GRCh37 |
NC_000002.10:g.136291442G>C | NCBI36 |
NG_008104.2:g.42768C>G , LRG_338:g.42768C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264162.7:c.1646C>G MANE Select | ENSP00000264162.2:p.Ala549Gly | |
ENST00000264162.6:c.1646C>G | ENSP00000264162.2:p.Ala549Gly | |
NM_002299.2:c.1646C>G , LRG_338t1:c.1646C>G | NP_002290.2:p.Ala549Gly | |
NM_002299.3:c.1646C>G | NP_002290.2:p.Ala549Gly | |
XM_017004088.2:c.1646C>G | XP_016859577.1:p.Ala549Gly | |
NM_002299.4:c.1646C>G MANE Select | NP_002290.2:p.Ala549Gly |