HGVS | Genome Assembly |
---|---|
NC_000018.10:g.53530928A>C , CM000680.2:g.53530928A>C | GRCh38 |
NC_000018.9:g.51057298A>C , CM000680.1:g.51057298A>C | GRCh37 |
NC_000018.8:g.49311296A>C | NCBI36 |
NG_013341.1:g.1195757A>C | |
NG_013341.2:g.1195757A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000442544.7:c.*275A>C MANE Select | ENSP00000389140.2:n.*275A>C | |
ENST00000412726.5:c.4550A>C | ENSP00000397322.2:n.4550A>C | |
ENST00000442544.6:c.*275A>C | ENSP00000389140.2:n.*275A>C | |
NM_005215.3:c.*275A>C | NP_005206.2:n.*275A>C | |
XM_011525844.1:c.*275A>C | XP_011524146.1:n.*275A>C | |
XM_011525844.2:c.*275A>C | XP_011524146.1:n.*275A>C | |
XM_017025568.1:c.*275A>C | XP_016881057.1:n.*275A>C | |
XM_017025569.1:c.*275A>C | XP_016881058.1:n.*275A>C | |
XM_017025570.1:c.*275A>C | XP_016881059.1:n.*275A>C | |
NM_005215.4:c.*275A>C MANE Select | NP_005206.2:n.*275A>C |