HGVS | Genome Assembly |
---|---|
NC_000001.11:g.212883402A>C , CM000663.2:g.212883402A>C | GRCh38 |
NC_000001.10:g.213056744A>C , CM000663.1:g.213056744A>C | GRCh37 |
NC_000001.9:g.211123367A>C | NCBI36 |
NG_028131.1:g.30148A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000366971.9:c.1056A>C MANE Select | ENSP00000355938.4:p.Ser352= | |
ENST00000366971.8:c.1056A>C | ENSP00000355938.4:p.Ser352= | |
ENST00000419102.1:c.452A>C | ||
ENST00000474693.1:n.281A>C | ||
NM_014053.3:c.1056A>C | NP_054772.1:p.Ser352= | |
XM_011509446.1:c.1056A>C | XP_011507748.1:p.Ser352= | |
XR_247024.1:n.1230A>C | ||
XR_426771.1:n.1357A>C | ||
XM_011509446.3:c.1056A>C | XP_011507748.1:p.Ser352= | |
XR_247024.3:n.1230A>C | ||
NM_014053.4:c.1056A>C MANE Select | NP_054772.1:p.Ser352= |