HGVS | Genome Assembly |
---|---|
NC_000001.11:g.17117905C>T , CM000663.2:g.17117905C>T | GRCh38 |
NC_000001.10:g.17444400C>T , CM000663.1:g.17444400C>T | GRCh37 |
NC_000001.9:g.17316987C>T | NCBI36 |
NG_033958.1:g.6549G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000375486.9:c.92+1375G>A MANE Select | ENSP00000364635.4:n.92+1375G>A | |
ENST00000375481.1:c.92+1375G>A | ENSP00000364630.1:n.92+1375G>A | |
ENST00000375486.8:c.92+1375G>A | ENSP00000364635.4:n.92+1375G>A | |
NM_007365.2:c.92+1375G>A | NP_031391.2:n.92+1375G>A | |
XM_011540549.1:c.92+1375G>A | XP_011538851.1:n.92+1375G>A | |
XR_947004.1:n.4481C>T | ||
XR_001736944.1:n.174+1375G>A | ||
NM_007365.3:c.92+1375G>A MANE Select | NP_031391.2:n.92+1375G>A |