Linked Data
ClinVar Variation Id:
510611
dbSNP Id:
rs201692248
ExAC:
6:152623204 G / A
gnomAD v2:
6-152623204-G-A
gnomAD v3:
6-152302069-G-A
gnomAD v4:
6-152302069-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152302069G>A , CM000668.2:g.152302069G>A | GRCh38 |
| NC_000006.11:g.152623204G>A , CM000668.1:g.152623204G>A | GRCh37 |
| NC_000006.10:g.152664897G>A | NCBI36 |
| NG_012855.1:g.340331C>T | |
| NG_012855.2:g.340331C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367255.10:c.17347-6C>T MANE Select | ENSP00000356224.5:n.17347-6C>T | |
| ENST00000423061.6:c.17134-6C>T | ENSP00000396024.1:n.17134-6C>T | |
| ENST00000341594.9:c.16132-6C>T | ENSP00000341887.6:n.16132-6C>T | |
| ENST00000367255.9:c.17347-6C>T | ENSP00000356224.5:n.17347-6C>T | |
| ENST00000367256.9:n.1039-6C>T | ||
| ENST00000409694.6:n.931-6C>T | ||
| ENST00000423061.5:c.17134-6C>T | ENSP00000396024.1:n.17134-6C>T | |
| ENST00000489156.1:n.201C>T | ||
| ENST00000537033.1:c.7C>T | ENSP00000443879.1:p.Pro3Ser | |
| ENST00000540663.5:c.7C>T | ENSP00000437411.1:p.Pro3Ser | |
| NM_033071.3:c.17134-6C>T | NP_149062.1:n.17134-6C>T | |
| NM_182961.3:c.17347-6C>T | NP_892006.3:n.17347-6C>T | |
| XM_006715407.1:c.17368-6C>T | XP_006715470.1:n.17368-6C>T | |
| XM_006715408.1:c.17368-6C>T | XP_006715471.1:n.17368-6C>T | |
| XM_006715409.1:c.17347-6C>T | XP_006715472.1:n.17347-6C>T | |
| XM_006715410.1:c.17368-6C>T | XP_006715473.1:n.17368-6C>T | |
| XM_006715411.1:c.17317-6C>T | XP_006715474.1:n.17317-6C>T | |
| XM_006715412.1:c.17368-6C>T | XP_006715475.1:n.17368-6C>T | |
| XM_006715413.1:c.17368-6C>T | XP_006715476.1:n.17368-6C>T | |
| XM_006715414.1:c.17296-6C>T | XP_006715477.1:n.17296-6C>T | |
| XM_006715415.1:c.17368-6C>T | XP_006715478.1:n.17368-6C>T | |
| XM_006715416.1:c.17368-6C>T | XP_006715479.1:n.17368-6C>T | |
| XM_006715417.1:c.17368-6C>T | XP_006715480.1:n.17368-6C>T | |
| XM_006715420.1:c.17368-6C>T | XP_006715483.1:n.17368-6C>T | |
| XM_006715421.1:c.17212-6C>T | XP_006715484.1:n.17212-6C>T | |
| XM_006715422.1:c.17209-6C>T | XP_006715485.1:n.17209-6C>T | |
| XM_006715423.1:c.17368-6C>T | XP_006715486.1:n.17368-6C>T | |
| XM_006715424.1:c.17368-6C>T | XP_006715487.1:n.17368-6C>T | |
| XM_006715425.1:c.17368-6C>T | XP_006715488.1:n.17368-6C>T | |
| XM_011535641.1:c.17368-6C>T | XP_011533943.1:n.17368-6C>T | |
| XM_011535642.1:c.17368-6C>T | XP_011533944.1:n.17368-6C>T | |
| XM_011535643.1:c.17203-6C>T | XP_011533945.1:n.17203-6C>T | |
| XM_011535644.1:c.15643-6C>T | XP_011533946.1:n.15643-6C>T | |
| XM_011535645.1:c.15136-6C>T | XP_011533947.1:n.15136-6C>T | |
| XM_011535646.1:c.17368-6C>T | XP_011533948.1:n.17368-6C>T | |
| XM_011535647.1:c.10603-6C>T | XP_011533949.1:n.10603-6C>T | |
| XM_006715408.2:c.17368-6C>T | XP_006715471.1:n.17368-6C>T | |
| XM_006715410.2:c.17368-6C>T | XP_006715473.1:n.17368-6C>T | |
| XM_006715412.2:c.17368-6C>T | XP_006715475.1:n.17368-6C>T | |
| XM_006715413.2:c.17368-6C>T | XP_006715476.1:n.17368-6C>T | |
| XM_006715415.2:c.17368-6C>T | XP_006715478.1:n.17368-6C>T | |
| XM_006715416.2:c.17368-6C>T | XP_006715479.1:n.17368-6C>T | |
| XM_006715417.2:c.17368-6C>T | XP_006715480.1:n.17368-6C>T | |
| XM_006715420.2:c.17368-6C>T | XP_006715483.1:n.17368-6C>T | |
| XM_006715421.2:c.17212-6C>T | XP_006715484.1:n.17212-6C>T | |
| XM_006715423.2:c.17368-6C>T | XP_006715486.1:n.17368-6C>T | |
| XM_006715424.2:c.17368-6C>T | XP_006715487.1:n.17368-6C>T | |
| XM_006715425.2:c.17368-6C>T | XP_006715488.1:n.17368-6C>T | |
| XM_011535641.2:c.17368-6C>T | XP_011533943.1:n.17368-6C>T | |
| XM_011535642.2:c.17368-6C>T | XP_011533944.1:n.17368-6C>T | |
| XM_011535645.2:c.15136-6C>T | XP_011533947.1:n.15136-6C>T | |
| XM_017010608.1:c.17368-6C>T | XP_016866097.1:n.17368-6C>T | |
| XM_017010609.1:c.17368-6C>T | XP_016866098.1:n.17368-6C>T | |
| XM_017010610.1:c.17347-6C>T | XP_016866099.1:n.17347-6C>T | |
| XM_017010611.2:c.17341-6C>T | XP_016866100.1:n.17341-6C>T | |
| XM_017010612.1:c.17290-6C>T | XP_016866101.1:n.17290-6C>T | |
| XM_017010613.1:c.17368-6C>T | XP_016866102.1:n.17368-6C>T | |
| XM_017010614.1:c.17368-6C>T | XP_016866103.1:n.17368-6C>T | |
| XM_017010615.1:c.17368-6C>T | XP_016866104.1:n.17368-6C>T | |
| XM_017010616.1:c.17368-6C>T | XP_016866105.1:n.17368-6C>T | |
| XM_017010617.1:c.17368-6C>T | XP_016866106.1:n.17368-6C>T | |
| XM_017010618.1:c.17368-6C>T | XP_016866107.1:n.17368-6C>T | |
| XM_017010619.1:c.15643-6C>T | XP_016866108.1:n.15643-6C>T | |
| XR_001743287.1:n.17851-6C>T | ||
| NM_182961.4:c.17347-6C>T MANE Select | NP_892006.3:n.17347-6C>T | |
| NM_033071.5:c.17134-6C>T | NP_149062.2:n.17134-6C>T |