Linked Data
dbSNP Id:
rs200564985
ExAC:
17:73520314 G / T
gnomAD v2:
17-73520314-G-T
gnomAD v3:
17-75524233-G-T
gnomAD v4:
17-75524233-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75524233G>T , CM000679.2:g.75524233G>T | GRCh38 |
| NC_000017.10:g.73520314G>T , CM000679.1:g.73520314G>T | GRCh37 |
| NC_000017.9:g.71031909G>T | NCBI36 |
| NG_013041.1:g.12706G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333213.11:c.1431-29G>T MANE Select | ENSP00000327487.6:n.1431-29G>T | |
| ENST00000434205.8:c.1128-29G>T | ENSP00000406559.4:n.1128-29G>T | |
| ENST00000545228.3:c.1619-29G>T | ENSP00000438169.3:n.1619-29G>T | |
| ENST00000577197.2:n.629-29G>T | ||
| ENST00000579449.2:n.2171-29G>T | ||
| ENST00000580013.6:n.2575-29G>T | ||
| ENST00000679370.1:n.2953-29G>T | ||
| ENST00000679429.1:c.*889-29G>T | ENSP00000505403.1:n.*889-29G>T | |
| ENST00000679443.1:n.1500-29G>T | ||
| ENST00000679782.1:c.*130-29G>T | ENSP00000505995.1:n.*130-29G>T | |
| ENST00000679919.1:n.1702-29G>T | ||
| ENST00000679928.1:c.*1983-29G>T | ENSP00000506071.1:n.*1983-29G>T | |
| ENST00000680528.1:n.2397-29G>T | ||
| ENST00000680999.1:c.1644-29G>T | ENSP00000504984.1:n.1644-29G>T | |
| ENST00000681282.1:c.*1618-29G>T | ENSP00000506339.1:n.*1618-29G>T | |
| ENST00000333213.10:c.1431-29G>T | ENSP00000327487.6:n.1431-29G>T | |
| ENST00000545228.2:c.708-29G>T | ||
| ENST00000577197.1:n.179-29G>T | ||
| ENST00000579449.1:n.628-29G>T | ||
| NM_207346.2:c.1431-29G>T | NP_997229.2:n.1431-29G>T | |
| XM_005257229.2:c.1619-29G>T | XP_005257286.1:n.1619-29G>T | |
| XM_006721821.2:c.1316-29G>T | XP_006721884.1:n.1316-29G>T | |
| XM_011524616.1:c.1502-29G>T | XP_011522918.1:n.1502-29G>T | |
| XM_011524617.1:c.*13-29G>T | XP_011522919.1:n.*13-29G>T | |
| XM_011524618.1:c.1314-29G>T | XP_011522920.1:n.1314-29G>T | |
| XR_243646.2:n.1663-29G>T | ||
| XM_005257229.4:c.1619-29G>T | XP_005257286.1:n.1619-29G>T | |
| XR_001753015.1:n.87+78C>A | ||
| XR_001753016.1:n.88+78C>A | ||
| XR_243646.4:n.1669-29G>T | ||
| NM_207346.3:c.1431-29G>T MANE Select | NP_997229.2:n.1431-29G>T |