HGVS | Genome Assembly |
---|---|
NC_000002.12:g.135807148C= , CM000664.2:g.135807148C= | GRCh38 |
NC_000002.11:g.136564718C= , CM000664.1:g.136564718C= | GRCh37 |
NC_000002.10:g.136281188C= | NCBI36 |
NG_008104.2:g.53022G= , LRG_338:g.53022G= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000264162.7:c.4153G= MANE Select | ENSP00000264162.2:p.Ala1385= | |
ENST00000264162.6:c.4153G= | ENSP00000264162.2:p.Ala1385= | |
ENST00000452974.1:c.2449G= | ENSP00000391231.1:p.Ala817= | |
NM_002299.2:c.4153G= , LRG_338t1:c.4153G= | NP_002290.2:p.Ala1385= | |
NM_002299.3:c.4153G= | NP_002290.2:p.Ala1385= | |
XM_017004088.2:c.4153G= | XP_016859577.1:p.Ala1385= | |
NM_002299.4:c.4153G= MANE Select | NP_002290.2:p.Ala1385= |