Linked Data
dbSNP Id:
rs770687500
ExAC:
1:45479553 G / T
gnomAD v2:
1-45479553-G-T
gnomAD v3:
1-45013881-G-T
gnomAD v4:
1-45013881-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45013881G>T , CM000663.2:g.45013881G>T | GRCh38 |
| NC_000001.10:g.45479553G>T , CM000663.1:g.45479553G>T | GRCh37 |
| NC_000001.9:g.45252140G>T | NCBI36 |
| NG_007122.2:g.6724G>T | |
| NG_033058.1:g.2475C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000246337.9:c.475-28G>T MANE Select | ENSP00000246337.4:n.475-28G>T | |
| ENST00000434478.6:c.529-28G>T | ENSP00000404489.2:n.529-28G>T | |
| ENST00000491773.6:c.370-28G>T | ENSP00000498551.1:n.370-28G>T | |
| ENST00000636293.1:c.475-28G>T | ENSP00000490710.1:n.475-28G>T | |
| ENST00000636836.1:c.475-28G>T | ENSP00000490594.1:n.475-28G>T | |
| ENST00000651476.1:c.370-28G>T | ENSP00000498668.1:n.370-28G>T | |
| ENST00000652165.1:c.370-28G>T | ENSP00000498295.1:n.370-28G>T | |
| ENST00000652287.1:c.412-28G>T | ENSP00000498413.1:n.412-28G>T | |
| ENST00000652514.1:c.436-28G>T | ENSP00000498635.1:n.436-28G>T | |
| ENST00000246337.8:c.475-28G>T | ENSP00000246337.4:n.475-28G>T | |
| ENST00000428106.1:c.454+90G>T | ||
| ENST00000434478.5:c.412-28G>T | ENSP00000404489.1:n.412-28G>T | |
| ENST00000460334.5:n.502-28G>T | ||
| ENST00000460906.5:n.581G>T | ||
| ENST00000462688.5:n.602-28G>T | ||
| ENST00000463092.5:n.960G>T | ||
| ENST00000469548.5:n.671-28G>T | ||
| ENST00000473012.1:n.522-28G>T | ||
| ENST00000478467.5:n.478-28G>T | ||
| ENST00000486699.5:n.595-28G>T | ||
| ENST00000490385.5:n.549-28G>T | ||
| ENST00000491300.5:n.594-28G>T | ||
| ENST00000491773.5:n.629-28G>T | ||
| ENST00000494399.5:n.615-28G>T | ||
| ENST00000496439.1:n.543G>T | ||
| NM_000374.4:c.475-28G>T | NP_000365.3:n.475-28G>T | |
| NR_036510.1:n.658-28G>T | ||
| XM_005271169.1:c.259-28G>T | XP_005271226.1:n.259-28G>T | |
| XM_005271170.1:c.259-28G>T | XP_005271227.1:n.259-28G>T | |
| XM_011542080.1:c.412-28G>T | XP_011540382.1:n.412-28G>T | |
| XM_011542081.1:c.307-28G>T | XP_011540383.1:n.307-28G>T | |
| NM_000374.5:c.475-28G>T MANE Select | NP_000365.3:n.475-28G>T | |
| NR_158184.1:n.556-28G>T | ||
| NR_158185.1:n.506-28G>T | ||
| NR_036510.2:n.537-28G>T |