Linked Data
ClinVar Variation Id:
129191
dbSNP Id:
rs7193290
ExAC:
16:9934969 G / A
gnomAD v2:
16-9934969-G-A
gnomAD v3:
16-9841112-G-A
gnomAD v4:
16-9841112-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.9841112G>A , CM000678.2:g.9841112G>A | GRCh38 |
| NC_000016.9:g.9934969G>A , CM000678.1:g.9934969G>A | GRCh37 |
| NC_000016.8:g.9842470G>A | NCBI36 |
| NG_011812.1:g.346643C>T | |
| NG_011812.2:g.346643C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000330684.4:c.1329-8C>T MANE Select | ENSP00000332549.3:n.1329-8C>T | |
| ENST00000535259.6:c.858-8C>T | ENSP00000441572.3:n.858-8C>T | |
| ENST00000636273.2:n.922-8C>T | ||
| ENST00000674742.1:c.858-8C>T | ENSP00000502200.1:n.858-8C>T | |
| ENST00000675189.1:n.1813-8C>T | ||
| ENST00000675398.1:c.1329-8C>T | ENSP00000502752.1:n.1329-8C>T | |
| ENST00000330684.3:c.1329-8C>T | ENSP00000332549.3:n.1329-8C>T | |
| ENST00000396573.6:c.1329-8C>T | ENSP00000379818.2:n.1329-8C>T | |
| ENST00000396575.6:c.918-8C>T | ENSP00000379820.3:n.918-8C>T | |
| ENST00000461292.3:n.968-8C>T | ||
| ENST00000535259.5:c.918-8C>T | ENSP00000441572.2:n.918-8C>T | |
| ENST00000562109.5:c.1329-8C>T | ENSP00000454998.1:n.1329-8C>T | |
| NM_000833.4:c.1329-8C>T | NP_000824.1:n.1329-8C>T | |
| NM_001134407.2:c.1329-8C>T | NP_001127879.1:n.1329-8C>T | |
| NM_001134408.2:c.1329-8C>T | NP_001127880.1:n.1329-8C>T | |
| XM_011522456.1:c.1170-8C>T | XP_011520758.1:n.1170-8C>T | |
| XM_011522457.1:c.1071-8C>T | XP_011520759.1:n.1071-8C>T | |
| XM_011522458.1:c.858-8C>T | XP_011520760.1:n.858-8C>T | |
| XM_011522459.1:c.858-8C>T | XP_011520761.1:n.858-8C>T | |
| XM_011522460.1:c.858-8C>T | XP_011520762.1:n.858-8C>T | |
| XM_011522461.1:c.1329-8C>T | XP_011520763.1:n.1329-8C>T | |
| XM_011522458.3:c.858-8C>T | XP_011520760.1:n.858-8C>T | |
| XM_011522461.3:c.1329-8C>T | XP_011520763.1:n.1329-8C>T | |
| XM_017023172.1:c.1485-8C>T | XP_016878661.1:n.1485-8C>T | |
| XM_017023173.1:c.1485-8C>T | XP_016878662.1:n.1485-8C>T | |
| NM_001134407.3:c.1329-8C>T MANE Select | NP_001127879.1:n.1329-8C>T | |
| NM_000833.5:c.1329-8C>T | NP_000824.1:n.1329-8C>T |