HGVS | Genome Assembly |
---|---|
NC_000015.10:g.59195731C>G , CM000677.2:g.59195731C>G | GRCh38 |
NC_000015.9:g.59487930C>G , CM000677.1:g.59487930C>G | GRCh37 |
NC_000015.8:g.57275222C>G | NCBI36 |
NG_031999.1:g.182142G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000288235.9:c.1699-164G>C MANE Select | ENSP00000288235.4:n.1699-164G>C | |
ENST00000288235.8:c.1699-164G>C | ENSP00000288235.4:n.1699-164G>C | |
ENST00000558182.5:n.225-164G>C | ||
ENST00000559269.5:c.597+22160G>C | ENSP00000453232.1:n.597+22160G>C | |
ENST00000560642.1:n.489-164G>C | ||
ENST00000560749.1:c.270-164G>C | ||
NM_004998.3:c.1699-164G>C | NP_004989.2:n.1699-164G>C | |
XM_024449932.1:c.157-164G>C | XP_024305700.1:n.157-164G>C | |
NM_004998.4:c.1699-164G>C MANE Select | NP_004989.2:n.1699-164G>C |