HGVS | Genome Assembly |
---|---|
NC_000001.11:g.216324247T>G , CM000663.2:g.216324247T>G | GRCh38 |
NC_000001.10:g.216497589T>G , CM000663.1:g.216497589T>G | GRCh37 |
NC_000001.9:g.214564212T>G | NCBI36 |
NG_009497.1:g.104150A>C | |
NG_009497.2:g.104202A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000307340.8:c.1249A>C MANE Select | ENSP00000305941.3:p.Arg417= | |
ENST00000674083.1:c.1249A>C | ENSP00000501296.1:p.Arg417= | |
ENST00000307340.7:c.1249A>C | ENSP00000305941.3:p.Arg417= | |
ENST00000366942.3:c.1249A>C | ENSP00000355909.3:p.Arg417= | |
NM_007123.5:c.1249A>C | NP_009054.5:p.Arg417= | |
NM_206933.2:c.1249A>C | NP_996816.2:p.Arg417= | |
NM_206933.3:c.1249A>C | NP_996816.2:p.Arg417= | |
NM_007123.6:c.1249A>C | NP_009054.6:p.Arg417= | |
NM_206933.4:c.1249A>C MANE Select | NP_996816.3:p.Arg417= |