Linked Data
dbSNP Id:
rs775711469
ExAC:
16:87936006 G / A
gnomAD v2:
16-87936006-G-A
gnomAD v4:
16-87902400-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.87902400G>A , CM000678.2:g.87902400G>A | GRCh38 |
| NC_000016.9:g.87936006G>A , CM000678.1:g.87936006G>A | GRCh37 |
| NC_000016.8:g.86493507G>A | NCBI36 |
| NG_033227.1:g.39107C>T | |
| NG_033227.2:g.39130C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648022.1:c.555+25C>T | ENSP00000497934.1:n.555+25C>T | |
| ENST00000648177.1:c.436+25C>T | ENSP00000497626.1:n.436+25C>T | |
| ENST00000649158.1:c.555+25C>T | ENSP00000496993.1:n.555+25C>T | |
| ENST00000649794.3:c.555+25C>T MANE Select | ENSP00000498065.2:n.555+25C>T | |
| ENST00000309893.3:c.555+25C>T | ENSP00000309649.2:n.555+25C>T | |
| NM_001739.1:c.555+25C>T | NP_001730.1:n.555+25C>T | |
| XM_011523309.1:c.555+25C>T | XP_011521611.1:n.555+25C>T | |
| XM_011523310.1:c.555+25C>T | XP_011521612.1:n.555+25C>T | |
| XR_933417.1:n.674+25C>T | ||
| NM_001739.2:c.555+25C>T MANE Select | NP_001730.1:n.555+25C>T | |
| XM_011523309.2:c.555+25C>T | XP_011521611.1:n.555+25C>T | |
| XM_017023646.1:c.555+25C>T | XP_016879135.1:n.555+25C>T | |
| XM_024450434.1:c.177+25C>T | XP_024306202.1:n.177+25C>T | |
| XR_002957839.1:n.680+25C>T | ||
| NM_001367225.1:c.555+25C>T | NP_001354154.1:n.555+25C>T | |
| NR_159798.1:n.634+25C>T | ||
| NR_159799.1:n.515+25C>T |