Linked Data
ClinVar Variation Id:
551259
dbSNP Id:
rs143674809
ExAC:
9:111637174 C / A
gnomAD v2:
9-111637174-C-A
gnomAD v3:
9-108874894-C-A
gnomAD v4:
9-108874894-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.108874894C>A , CM000671.2:g.108874894C>A | GRCh38 |
| NC_000009.11:g.111637174C>A , CM000671.1:g.111637174C>A | GRCh37 |
| NC_000009.10:g.110676995C>A | NCBI36 |
| NG_008788.1:g.64435G>T , LRG_251:g.64435G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374647.10:c.3931+1G>T MANE Select | ENSP00000363779.5:n.3931+1G>T | |
| ENST00000495759.6:c.*2541+1G>T | ENSP00000433514.2:n.*2541+1G>T | |
| ENST00000674535.1:c.3855+3101G>T | ENSP00000502142.1:n.3855+3101G>T | |
| ENST00000674704.1:n.7016+1G>T | ||
| ENST00000674740.1:n.814+1G>T | ||
| ENST00000674836.1:n.4544+1G>T | ||
| ENST00000674890.1:c.*1166+1G>T | ENSP00000501870.1:n.*1166+1G>T | |
| ENST00000674938.1:c.3589+1G>T | ENSP00000502427.1:n.3589+1G>T | |
| ENST00000674948.1:c.3589+1G>T | ENSP00000501602.1:n.3589+1G>T | |
| ENST00000675052.1:c.3931+1G>T | ENSP00000502664.1:n.3931+1G>T | |
| ENST00000675078.1:c.*134+1G>T | ENSP00000501549.1:n.*134+1G>T | |
| ENST00000675215.1:c.*3155+1G>T | ENSP00000502558.1:n.*3155+1G>T | |
| ENST00000675233.1:n.5758+1G>T | ||
| ENST00000675252.1:n.1807+1G>T | ||
| ENST00000675321.1:c.3819+1G>T | ENSP00000502751.1:n.3819+1G>T | |
| ENST00000675325.1:n.5888+1G>T | ||
| ENST00000675335.1:c.3962+1G>T | ENSP00000502182.1:n.3962+1G>T | |
| ENST00000675400.1:n.5783+1G>T | ||
| ENST00000675406.1:c.3931+1G>T | ENSP00000501893.1:n.3931+1G>T | |
| ENST00000675458.1:c.4024+1G>T | ENSP00000501754.1:n.4024+1G>T | |
| ENST00000675507.1:n.5830+1G>T | ||
| ENST00000675535.1:c.*1558+1G>T | ENSP00000501667.1:n.*1558+1G>T | |
| ENST00000675566.1:n.5782+1G>T | ||
| ENST00000675580.1:n.1084+1G>T | ||
| ENST00000675602.1:n.6979+1G>T | ||
| ENST00000675647.1:n.5095+1G>T | ||
| ENST00000675711.1:c.4048+1G>T | ENSP00000502485.1:n.4048+1G>T | |
| ENST00000675727.1:c.*231+1G>T | ENSP00000501722.1:n.*231+1G>T | |
| ENST00000675748.1:n.5565+1G>T | ||
| ENST00000675765.1:c.*1314+1G>T | ENSP00000502640.1:n.*1314+1G>T | |
| ENST00000675825.1:c.3973+1G>T | ENSP00000502632.1:n.3973+1G>T | |
| ENST00000675877.1:n.5775+1G>T | ||
| ENST00000675893.1:c.*5000+1G>T | ENSP00000502001.1:n.*5000+1G>T | |
| ENST00000675943.1:n.7546+1G>T | ||
| ENST00000675979.1:c.*3174+1G>T | ENSP00000502208.1:n.*3174+1G>T | |
| ENST00000676044.1:c.*1591+1G>T | ENSP00000502378.1:n.*1591+1G>T | |
| ENST00000676086.1:n.5716+1G>T | ||
| ENST00000676121.1:n.5759+1G>T | ||
| ENST00000676162.1:n.660+1G>T | ||
| ENST00000676237.1:c.3874+1G>T | ENSP00000501828.1:n.3874+1G>T | |
| ENST00000676416.1:c.3631+1G>T | ENSP00000501660.1:n.3631+1G>T | |
| ENST00000676424.1:n.5769+1G>T | ||
| ENST00000676429.1:n.8400+1G>T | ||
| ENST00000374647.9:c.3931+1G>T | ENSP00000363779.5:n.3931+1G>T | |
| ENST00000495759.5:c.1174+1G>T | ||
| ENST00000537196.1:c.2884+1G>T | ENSP00000439367.1:n.2884+1G>T | |
| NM_003640.3:c.3931+1G>T , LRG_251t1:c.3931+1G>T | NP_003631.2:n.3931+1G>T | |
| XM_005252285.2:c.3589+1G>T | XP_005252342.1:n.3589+1G>T | |
| XM_011519136.1:c.3973+1G>T | XP_011517438.1:n.3973+1G>T | |
| XM_011519137.1:c.3631+1G>T | XP_011517439.1:n.3631+1G>T | |
| NM_001318360.1:c.3589+1G>T | NP_001305289.1:n.3589+1G>T | |
| NM_001330749.1:c.2884+1G>T | NP_001317678.1:n.2884+1G>T | |
| NM_003640.4:c.3931+1G>T | NP_003631.2:n.3931+1G>T | |
| XM_011519136.2:c.3973+1G>T | XP_011517438.1:n.3973+1G>T | |
| XR_929859.3:n.4320+1G>T | ||
| NM_003640.5:c.3931+1G>T MANE Select | NP_003631.2:n.3931+1G>T | |
| NM_001318360.2:c.3589+1G>T | NP_001305289.1:n.3589+1G>T | |
| NM_001330749.2:c.2884+1G>T | NP_001317678.1:n.2884+1G>T |