HGVS | Genome Assembly |
---|---|
NC_000001.11:g.147908290A>C , CM000663.2:g.147908290A>C | GRCh38 |
NC_000001.10:g.147380417A>C , CM000663.1:g.147380417A>C | GRCh37 |
NC_000001.9:g.145847041A>C | NCBI36 |
NG_016242.1:g.10472A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000369235.2:c.335A>C MANE Select | ENSP00000358238.1:p.Glu112Ala | |
ENST00000369235.1:c.335A>C | ENSP00000358238.1:p.Glu112Ala | |
NM_005267.4:c.335A>C | NP_005258.2:p.Glu112Ala | |
XM_011509416.1:c.335A>C | XP_011507718.1:p.Glu112Ala | |
XM_011509417.1:c.335A>C | XP_011507719.1:p.Glu112Ala | |
XM_011509417.2:c.335A>C | XP_011507719.1:p.Glu112Ala | |
XR_002956281.1:n.1250A>C | ||
NM_005267.5:c.335A>C MANE Select | NP_005258.2:p.Glu112Ala |