Linked Data
ClinVar Variation Id:
355834
dbSNP Id:
rs200930593
ExAC:
6:152551670 T / C
gnomAD v2:
6-152551670-T-C
gnomAD v3:
6-152230535-T-C
gnomAD v4:
6-152230535-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152230535T>C , CM000668.2:g.152230535T>C | GRCh38 |
| NC_000006.11:g.152551670T>C , CM000668.1:g.152551670T>C | GRCh37 |
| NC_000006.10:g.152593363T>C | NCBI36 |
| NG_012855.1:g.411865A>G | |
| NG_012855.2:g.411865A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367255.10:c.21195+12A>G MANE Select | ENSP00000356224.5:n.21195+12A>G | |
| ENST00000423061.6:c.20982+12A>G | ENSP00000396024.1:n.20982+12A>G | |
| ENST00000341594.9:c.19980+12A>G | ENSP00000341887.6:n.19980+12A>G | |
| ENST00000367255.9:c.21195+12A>G | ENSP00000356224.5:n.21195+12A>G | |
| ENST00000367256.9:n.4887+12A>G | ||
| ENST00000409694.6:n.4779+12A>G | ||
| ENST00000423061.5:c.20982+12A>G | ENSP00000396024.1:n.20982+12A>G | |
| NM_033071.3:c.20982+12A>G | NP_149062.1:n.20982+12A>G | |
| NM_182961.3:c.21195+12A>G | NP_892006.3:n.21195+12A>G | |
| XM_006715407.1:c.21231+12A>G | XP_006715470.1:n.21231+12A>G | |
| XM_006715408.1:c.21219+12A>G | XP_006715471.1:n.21219+12A>G | |
| XM_006715409.1:c.21210+12A>G | XP_006715472.1:n.21210+12A>G | |
| XM_006715410.1:c.21231+12A>G | XP_006715473.1:n.21231+12A>G | |
| XM_006715411.1:c.21180+12A>G | XP_006715474.1:n.21180+12A>G | |
| XM_006715412.1:c.21216+12A>G | XP_006715475.1:n.21216+12A>G | |
| XM_006715413.1:c.21231+12A>G | XP_006715476.1:n.21231+12A>G | |
| XM_006715414.1:c.21159+12A>G | XP_006715477.1:n.21159+12A>G | |
| XM_006715415.1:c.21231+12A>G | XP_006715478.1:n.21231+12A>G | |
| XM_006715416.1:c.21216+12A>G | XP_006715479.1:n.21216+12A>G | |
| XM_006715417.1:c.21090+12A>G | XP_006715480.1:n.21090+12A>G | |
| XM_006715420.1:c.21078+12A>G | XP_006715483.1:n.21078+12A>G | |
| XM_006715421.1:c.21075+12A>G | XP_006715484.1:n.21075+12A>G | |
| XM_006715422.1:c.21072+12A>G | XP_006715485.1:n.21072+12A>G | |
| XM_006715423.1:c.21231+12A>G | XP_006715486.1:n.21231+12A>G | |
| XM_006715424.1:c.21231+12A>G | XP_006715487.1:n.21231+12A>G | |
| XM_006715425.1:c.21231+12A>G | XP_006715488.1:n.21231+12A>G | |
| XM_011535641.1:c.21228+12A>G | XP_011533943.1:n.21228+12A>G | |
| XM_011535642.1:c.21216+12A>G | XP_011533944.1:n.21216+12A>G | |
| XM_011535643.1:c.21066+12A>G | XP_011533945.1:n.21066+12A>G | |
| XM_011535644.1:c.19506+12A>G | XP_011533946.1:n.19506+12A>G | |
| XM_011535645.1:c.18999+12A>G | XP_011533947.1:n.18999+12A>G | |
| XM_011535647.1:c.14466+12A>G | XP_011533949.1:n.14466+12A>G | |
| XM_006715408.2:c.21219+12A>G | XP_006715471.1:n.21219+12A>G | |
| XM_006715410.2:c.21231+12A>G | XP_006715473.1:n.21231+12A>G | |
| XM_006715412.2:c.21216+12A>G | XP_006715475.1:n.21216+12A>G | |
| XM_006715413.2:c.21231+12A>G | XP_006715476.1:n.21231+12A>G | |
| XM_006715415.2:c.21231+12A>G | XP_006715478.1:n.21231+12A>G | |
| XM_006715416.2:c.21216+12A>G | XP_006715479.1:n.21216+12A>G | |
| XM_006715417.2:c.21090+12A>G | XP_006715480.1:n.21090+12A>G | |
| XM_006715420.2:c.21078+12A>G | XP_006715483.1:n.21078+12A>G | |
| XM_006715421.2:c.21075+12A>G | XP_006715484.1:n.21075+12A>G | |
| XM_006715423.2:c.21231+12A>G | XP_006715486.1:n.21231+12A>G | |
| XM_006715424.2:c.21231+12A>G | XP_006715487.1:n.21231+12A>G | |
| XM_006715425.2:c.21231+12A>G | XP_006715488.1:n.21231+12A>G | |
| XM_011535641.2:c.21228+12A>G | XP_011533943.1:n.21228+12A>G | |
| XM_011535642.2:c.21216+12A>G | XP_011533944.1:n.21216+12A>G | |
| XM_011535645.2:c.18999+12A>G | XP_011533947.1:n.18999+12A>G | |
| XM_017010608.1:c.21231+12A>G | XP_016866097.1:n.21231+12A>G | |
| XM_017010609.1:c.21231+12A>G | XP_016866098.1:n.21231+12A>G | |
| XM_017010610.1:c.21210+12A>G | XP_016866099.1:n.21210+12A>G | |
| XM_017010611.2:c.21204+12A>G | XP_016866100.1:n.21204+12A>G | |
| XM_017010612.1:c.21153+12A>G | XP_016866101.1:n.21153+12A>G | |
| XM_017010613.1:c.21228+12A>G | XP_016866102.1:n.21228+12A>G | |
| XM_017010614.1:c.21075+12A>G | XP_016866103.1:n.21075+12A>G | |
| XM_017010615.1:c.21075+12A>G | XP_016866104.1:n.21075+12A>G | |
| XM_017010616.1:c.21231+12A>G | XP_016866105.1:n.21231+12A>G | |
| XM_017010617.1:c.21228+12A>G | XP_016866106.1:n.21228+12A>G | |
| XM_017010618.1:c.21216+12A>G | XP_016866107.1:n.21216+12A>G | |
| XM_017010619.1:c.19506+12A>G | XP_016866108.1:n.19506+12A>G | |
| NM_182961.4:c.21195+12A>G MANE Select | NP_892006.3:n.21195+12A>G | |
| NM_033071.5:c.20982+12A>G | NP_149062.2:n.20982+12A>G |