Linked Data
ClinVar Variation Id:
290880
dbSNP Id:
rs773593843
ExAC:
6:152652611 C / T
gnomAD v2:
6-152652611-C-T
gnomAD v3:
6-152331476-C-T
gnomAD v4:
6-152331476-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152331476C>T , CM000668.2:g.152331476C>T | GRCh38 |
| NC_000006.11:g.152652611C>T , CM000668.1:g.152652611C>T | GRCh37 |
| NC_000006.10:g.152694304C>T | NCBI36 |
| NG_012855.1:g.310924G>A | |
| NG_012855.2:g.310924G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367255.10:c.13209G>A MANE Select | ENSP00000356224.5:p.Ser4403= | |
| ENST00000423061.6:c.12996G>A | ENSP00000396024.1:p.Ser4332= | |
| ENST00000341594.9:c.12753G>A | ENSP00000341887.6:p.Ser4251= | |
| ENST00000367255.9:c.13209G>A | ENSP00000356224.5:p.Ser4403= | |
| ENST00000423061.5:c.12996G>A | ENSP00000396024.1:p.Ser4332= | |
| ENST00000448038.2:c.-2710G>A | ENSP00000390975.2:n.-2710G>A | |
| ENST00000490135.6:n.555G>A | ||
| NM_033071.3:c.12996G>A | NP_149062.1:p.Ser4332= | |
| NM_182961.3:c.13209G>A | NP_892006.3:p.Ser4403= | |
| XM_006715407.1:c.13230G>A | XP_006715470.1:p.Ser4410= | |
| XM_006715408.1:c.13230G>A | XP_006715471.1:p.Ser4410= | |
| XM_006715409.1:c.13209G>A | XP_006715472.1:p.Ser4403= | |
| XM_006715410.1:c.13230G>A | XP_006715473.1:p.Ser4410= | |
| XM_006715411.1:c.13179G>A | XP_006715474.1:p.Ser4393= | |
| XM_006715412.1:c.13230G>A | XP_006715475.1:p.Ser4410= | |
| XM_006715413.1:c.13230G>A | XP_006715476.1:p.Ser4410= | |
| XM_006715414.1:c.13158G>A | XP_006715477.1:p.Ser4386= | |
| XM_006715415.1:c.13230G>A | XP_006715478.1:p.Ser4410= | |
| XM_006715416.1:c.13230G>A | XP_006715479.1:p.Ser4410= | |
| XM_006715417.1:c.13230G>A | XP_006715480.1:p.Ser4410= | |
| XM_006715420.1:c.13230G>A | XP_006715483.1:p.Ser4410= | |
| XM_006715421.1:c.13074G>A | XP_006715484.1:p.Ser4358= | |
| XM_006715422.1:c.13071G>A | XP_006715485.1:p.Ser4357= | |
| XM_006715423.1:c.13230G>A | XP_006715486.1:p.Ser4410= | |
| XM_006715424.1:c.13230G>A | XP_006715487.1:p.Ser4410= | |
| XM_006715425.1:c.13230G>A | XP_006715488.1:p.Ser4410= | |
| XM_011535641.1:c.13230G>A | XP_011533943.1:p.Ser4410= | |
| XM_011535642.1:c.13230G>A | XP_011533944.1:p.Ser4410= | |
| XM_011535643.1:c.13065G>A | XP_011533945.1:p.Ser4355= | |
| XM_011535644.1:c.11505G>A | XP_011533946.1:p.Ser3835= | |
| XM_011535645.1:c.10998G>A | XP_011533947.1:p.Ser3666= | |
| XM_011535646.1:c.13230G>A | XP_011533948.1:p.Ser4410= | |
| XM_011535647.1:c.6465G>A | XP_011533949.1:p.Ser2155= | |
| XM_006715408.2:c.13230G>A | XP_006715471.1:p.Ser4410= | |
| XM_006715410.2:c.13230G>A | XP_006715473.1:p.Ser4410= | |
| XM_006715412.2:c.13230G>A | XP_006715475.1:p.Ser4410= | |
| XM_006715413.2:c.13230G>A | XP_006715476.1:p.Ser4410= | |
| XM_006715415.2:c.13230G>A | XP_006715478.1:p.Ser4410= | |
| XM_006715416.2:c.13230G>A | XP_006715479.1:p.Ser4410= | |
| XM_006715417.2:c.13230G>A | XP_006715480.1:p.Ser4410= | |
| XM_006715420.2:c.13230G>A | XP_006715483.1:p.Ser4410= | |
| XM_006715421.2:c.13074G>A | XP_006715484.1:p.Ser4358= | |
| XM_006715423.2:c.13230G>A | XP_006715486.1:p.Ser4410= | |
| XM_006715424.2:c.13230G>A | XP_006715487.1:p.Ser4410= | |
| XM_006715425.2:c.13230G>A | XP_006715488.1:p.Ser4410= | |
| XM_011535641.2:c.13230G>A | XP_011533943.1:p.Ser4410= | |
| XM_011535642.2:c.13230G>A | XP_011533944.1:p.Ser4410= | |
| XM_011535645.2:c.10998G>A | XP_011533947.1:p.Ser3666= | |
| XM_017010608.1:c.13230G>A | XP_016866097.1:p.Ser4410= | |
| XM_017010609.1:c.13230G>A | XP_016866098.1:p.Ser4410= | |
| XM_017010610.1:c.13209G>A | XP_016866099.1:p.Ser4403= | |
| XM_017010611.2:c.13203G>A | XP_016866100.1:p.Ser4401= | |
| XM_017010612.1:c.13152G>A | XP_016866101.1:p.Ser4384= | |
| XM_017010613.1:c.13230G>A | XP_016866102.1:p.Ser4410= | |
| XM_017010614.1:c.13230G>A | XP_016866103.1:p.Ser4410= | |
| XM_017010615.1:c.13230G>A | XP_016866104.1:p.Ser4410= | |
| XM_017010616.1:c.13230G>A | XP_016866105.1:p.Ser4410= | |
| XM_017010617.1:c.13230G>A | XP_016866106.1:p.Ser4410= | |
| XM_017010618.1:c.13230G>A | XP_016866107.1:p.Ser4410= | |
| XM_017010619.1:c.11505G>A | XP_016866108.1:p.Ser3835= | |
| XR_001743287.1:n.13713G>A | ||
| NM_182961.4:c.13209G>A MANE Select | NP_892006.3:p.Ser4403= | |
| NM_033071.5:c.12996G>A | NP_149062.2:p.Ser4332= |