HGVS | Genome Assembly |
---|---|
NC_000011.10:g.47437879C>G , CM000673.2:g.47437879C>G | GRCh38 |
NC_000011.9:g.47459430C>G , CM000673.1:g.47459430C>G | GRCh37 |
NC_000011.8:g.47416006C>G | NCBI36 |
NG_008312.1:g.16301G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000298854.7:c.*96G>C MANE Select | ENSP00000298854.2:n.*96G>C | |
ENST00000298854.6:c.*96G>C | ENSP00000298854.2:n.*96G>C | |
ENST00000352508.7:c.*96G>C | ENSP00000298853.3:n.*96G>C | |
ENST00000524487.5:c.*96G>C | ENSP00000435551.2:n.*96G>C | |
ENST00000528356.1:n.290G>C | ||
NM_005055.4:c.*96G>C | NP_005046.2:n.*96G>C | |
NM_032645.4:c.*96G>C | NP_116034.2:n.*96G>C | |
XM_011520252.1:c.1420G>C | XP_011518554.1:p.Val474Leu | |
NM_005055.5:c.*96G>C MANE Select | NP_005046.2:n.*96G>C | |
NM_032645.5:c.*96G>C | NP_116034.2:n.*96G>C |