HGVS | Genome Assembly |
---|---|
NC_000002.12:g.135833147C>G , CM000664.2:g.135833147C>G | GRCh38 |
NC_000002.11:g.136590717C>G , CM000664.1:g.136590717C>G | GRCh37 |
NC_000002.10:g.136307187C>G | NCBI36 |
NG_008104.2:g.27023G>C , LRG_338:g.27023G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264162.7:c.684G>C MANE Select | ENSP00000264162.2:p.Glu228Asp | |
ENST00000264162.6:c.684G>C | ENSP00000264162.2:p.Glu228Asp | |
NM_002299.2:c.684G>C , LRG_338t1:c.684G>C | NP_002290.2:p.Glu228Asp | |
NM_002299.3:c.684G>C | NP_002290.2:p.Glu228Asp | |
XM_017004088.2:c.684G>C | XP_016859577.1:p.Glu228Asp | |
NM_002299.4:c.684G>C MANE Select | NP_002290.2:p.Glu228Asp |