HGVS | Genome Assembly |
---|---|
NC_000013.11:g.28320278A>G , CM000675.2:g.28320278A>G | GRCh38 |
NC_000013.10:g.28894415A>G , CM000675.1:g.28894415A>G | GRCh37 |
NC_000013.9:g.27792415A>G | NCBI36 |
NG_012003.1:g.179851T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000706527.1:n.1000-744T>C | ||
ENST00000282397.9:c.3175-744T>C MANE Select | ENSP00000282397.4:n.3175-744T>C | |
ENST00000282397.8:c.3175-744T>C | ENSP00000282397.4:n.3175-744T>C | |
ENST00000540678.2:c.-585-744T>C | ENSP00000443311.2:n.-585-744T>C | |
ENST00000543394.2:c.244-744T>C | ENSP00000437841.1:n.244-744T>C | |
ENST00000615611.4:c.460-744T>C | ENSP00000484385.1:n.460-744T>C | |
NM_002019.4:c.3175-744T>C MANE Select | NP_002010.2:n.3175-744T>C | |
XR_941798.1:n.917+6498A>G | ||
XM_017020485.1:c.3061-744T>C | XP_016875974.1:n.3061-744T>C |