Linked Data
dbSNP Id:
rs1402961810
gnomAD v2:
17-73520333-G-T
gnomAD v3:
17-75524252-G-T
gnomAD v4:
17-75524252-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75524252G>T , CM000679.2:g.75524252G>T | GRCh38 |
| NC_000017.10:g.73520333G>T , CM000679.1:g.73520333G>T | GRCh37 |
| NC_000017.9:g.71031928G>T | NCBI36 |
| NG_013041.1:g.12725G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333213.11:c.1431-10G>T MANE Select | ENSP00000327487.6:n.1431-10G>T | |
| ENST00000434205.8:c.1128-10G>T | ENSP00000406559.4:n.1128-10G>T | |
| ENST00000545228.3:c.1619-10G>T | ENSP00000438169.3:n.1619-10G>T | |
| ENST00000577197.2:n.629-10G>T | ||
| ENST00000579449.2:n.2171-10G>T | ||
| ENST00000580013.6:n.2575-10G>T | ||
| ENST00000679370.1:n.2953-10G>T | ||
| ENST00000679429.1:c.*889-10G>T | ENSP00000505403.1:n.*889-10G>T | |
| ENST00000679443.1:n.1500-10G>T | ||
| ENST00000679782.1:c.*130-10G>T | ENSP00000505995.1:n.*130-10G>T | |
| ENST00000679919.1:n.1702-10G>T | ||
| ENST00000679928.1:c.*1983-10G>T | ENSP00000506071.1:n.*1983-10G>T | |
| ENST00000680528.1:n.2397-10G>T | ||
| ENST00000680999.1:c.1644-10G>T | ENSP00000504984.1:n.1644-10G>T | |
| ENST00000681282.1:c.*1618-10G>T | ENSP00000506339.1:n.*1618-10G>T | |
| ENST00000333213.10:c.1431-10G>T | ENSP00000327487.6:n.1431-10G>T | |
| ENST00000545228.2:c.708-10G>T | ||
| ENST00000577197.1:n.179-10G>T | ||
| ENST00000579449.1:n.628-10G>T | ||
| NM_207346.2:c.1431-10G>T | NP_997229.2:n.1431-10G>T | |
| XM_005257229.2:c.1619-10G>T | XP_005257286.1:n.1619-10G>T | |
| XM_006721821.2:c.1316-10G>T | XP_006721884.1:n.1316-10G>T | |
| XM_011524616.1:c.1502-10G>T | XP_011522918.1:n.1502-10G>T | |
| XM_011524617.1:c.*13-10G>T | XP_011522919.1:n.*13-10G>T | |
| XM_011524618.1:c.1314-10G>T | XP_011522920.1:n.1314-10G>T | |
| XR_243646.2:n.1663-10G>T | ||
| XM_005257229.4:c.1619-10G>T | XP_005257286.1:n.1619-10G>T | |
| XR_001753015.1:n.87+59C>A | ||
| XR_001753016.1:n.88+59C>A | ||
| XR_243646.4:n.1669-10G>T | ||
| NM_207346.3:c.1431-10G>T MANE Select | NP_997229.2:n.1431-10G>T |