Linked Data
ClinVar Variation Id:
305785
dbSNP Id:
rs199632510
ExAC:
11:67810471 G / A
gnomAD v2:
11-67810471-G-A
gnomAD v3:
11-68043004-G-A
gnomAD v4:
11-68043004-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68043004G>A , CM000673.2:g.68043004G>A | GRCh38 |
| NC_000011.9:g.67810471G>A , CM000673.1:g.67810471G>A | GRCh37 |
| NC_000011.8:g.67567047G>A | NCBI36 |
| NG_007878.1:g.8989G>A , LRG_115:g.8989G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698254.1:c.403+155G>A | ENSP00000513629.1:n.403+155G>A | |
| ENST00000698255.1:c.476G>A | ENSP00000513630.1:p.Gly159Glu | |
| ENST00000265686.8:c.476G>A MANE Select | ENSP00000265686.3:p.Gly159Glu | |
| ENST00000265686.7:c.476G>A | ENSP00000265686.3:p.Gly159Glu | |
| ENST00000524598.5:c.434G>A | ENSP00000432846.1:p.Gly145Glu | |
| ENST00000529657.1:c.476G>A | ENSP00000435023.1:p.Gly159Glu | |
| ENST00000532635.5:c.-512G>A | ENSP00000434407.1:n.-512G>A | |
| ENST00000533947.1:n.443G>A | ||
| ENST00000534673.5:c.476G>A | ENSP00000431174.1:p.Gly159Glu | |
| NM_006019.3:c.476G>A | NP_006010.2:p.Gly159Glu | |
| NM_006053.3:c.-512G>A | NP_006044.1:n.-512G>A | |
| XM_005273709.2:c.476G>A | XP_005273766.1:p.Gly159Glu | |
| XM_011544726.1:c.476G>A | XP_011543028.1:p.Gly159Glu | |
| XM_011544727.1:c.476G>A | XP_011543029.1:p.Gly159Glu | |
| XM_011544728.1:c.476G>A | XP_011543030.1:p.Gly159Glu | |
| XM_011544729.1:c.476G>A | XP_011543031.1:p.Gly159Glu | |
| XR_949754.1:n.480G>A | ||
| NM_001351059.1:c.-774G>A | NP_001337988.1:n.-774G>A | |
| XM_024448320.1:c.476G>A | XP_024304088.1:p.Gly159Glu | |
| XM_024448321.1:c.476G>A | XP_024304089.1:p.Gly159Glu | |
| XM_024448322.1:c.476G>A | XP_024304090.1:p.Gly159Glu | |
| XM_024448323.1:c.476G>A | XP_024304091.1:p.Gly159Glu | |
| XM_024448324.1:c.476G>A | XP_024304092.1:p.Gly159Glu | |
| XR_001747721.2:n.600G>A | ||
| XR_001747722.1:n.597G>A | ||
| XR_001747723.2:n.597G>A | ||
| XR_002957115.1:n.598G>A | ||
| NM_006019.4:c.476G>A MANE Select | NP_006010.2:p.Gly159Glu | |
| NM_001351059.2:c.-774G>A | NP_001337988.1:n.-774G>A | |
| NM_006053.4:c.-512G>A | NP_006044.1:n.-512G>A |