Linked Data
ClinVar Variation Id:
305780
dbSNP Id:
rs139397145
ExAC:
11:67808820 C / T
gnomAD v2:
11-67808820-C-T
gnomAD v3:
11-68041353-C-T
gnomAD v4:
11-68041353-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68041353C>T , CM000673.2:g.68041353C>T | GRCh38 |
| NC_000011.9:g.67808820C>T , CM000673.1:g.67808820C>T | GRCh37 |
| NC_000011.8:g.67565396C>T | NCBI36 |
| NG_007878.1:g.7338C>T , LRG_115:g.7338C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698254.1:c.82C>T | ENSP00000513629.1:p.Arg28Trp | |
| ENST00000698255.1:c.82C>T | ENSP00000513630.1:p.Arg28Trp | |
| ENST00000265686.8:c.82C>T MANE Select | ENSP00000265686.3:p.Arg28Trp | |
| ENST00000265686.7:c.82C>T | ENSP00000265686.3:p.Arg28Trp | |
| ENST00000524598.5:c.75+7C>T | ENSP00000432846.1:n.75+7C>T | |
| ENST00000529657.1:c.82C>T | ENSP00000435023.1:p.Arg28Trp | |
| ENST00000533947.1:n.84+7C>T | ||
| ENST00000534673.5:c.82C>T | ENSP00000431174.1:p.Arg28Trp | |
| NM_006019.3:c.82C>T | NP_006010.2:p.Arg28Trp | |
| XM_005273709.2:c.82C>T | XP_005273766.1:p.Arg28Trp | |
| XM_011544726.1:c.82C>T | XP_011543028.1:p.Arg28Trp | |
| XM_011544727.1:c.82C>T | XP_011543029.1:p.Arg28Trp | |
| XM_011544728.1:c.82C>T | XP_011543030.1:p.Arg28Trp | |
| XM_011544729.1:c.82C>T | XP_011543031.1:p.Arg28Trp | |
| XR_949754.1:n.86C>T | ||
| NM_001351059.1:c.-1168C>T | NP_001337988.1:n.-1168C>T | |
| XM_024448320.1:c.82C>T | XP_024304088.1:p.Arg28Trp | |
| XM_024448321.1:c.82C>T | XP_024304089.1:p.Arg28Trp | |
| XM_024448322.1:c.82C>T | XP_024304090.1:p.Arg28Trp | |
| XM_024448323.1:c.82C>T | XP_024304091.1:p.Arg28Trp | |
| XM_024448324.1:c.82C>T | XP_024304092.1:p.Arg28Trp | |
| XR_001747721.2:n.206C>T | ||
| XR_001747722.1:n.203C>T | ||
| XR_001747723.2:n.203C>T | ||
| XR_002957115.1:n.204C>T | ||
| NM_006019.4:c.82C>T MANE Select | NP_006010.2:p.Arg28Trp | |
| NM_001351059.2:c.-1168C>T | NP_001337988.1:n.-1168C>T |