Linked Data
ClinVar Variation Id:
478372
dbSNP Id:
rs776126866
ExAC:
11:85988117 G / A
gnomAD v2:
11-85988117-G-A
gnomAD v3:
11-86277075-G-A
gnomAD v4:
11-86277075-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.86277075G>A , CM000673.2:g.86277075G>A | GRCh38 |
| NC_000011.9:g.85988117G>A , CM000673.1:g.85988117G>A | GRCh37 |
| NC_000011.8:g.85665765G>A | NCBI36 |
| NG_029595.1:g.37312G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000707108.1:c.957G>A | ENSP00000516737.1:p.Gly319= | |
| ENST00000263360.11:c.1062G>A MANE Select | ENSP00000263360.6:p.Gly354= | |
| ENST00000672825.1:c.1062G>A | ENSP00000500834.1:p.Gly354= | |
| ENST00000673233.2:c.1242G>A | ENSP00000500914.2:p.Gly414= | |
| ENST00000263360.10:c.1062G>A | ENSP00000263360.6:p.Gly354= | |
| ENST00000327320.8:c.1062G>A | ENSP00000315587.4:p.Gly354= | |
| ENST00000351625.10:c.1137G>A | ENSP00000338186.5:p.Gly379= | |
| ENST00000524673.2:n.838G>A | ||
| ENST00000525244.5:n.1024G>A | ||
| ENST00000527888.1:c.57G>A | ENSP00000437318.1:p.Gly19= | |
| ENST00000528180.5:c.822G>A | ENSP00000431778.1:p.Gly274= | |
| ENST00000534564.5:n.2474G>A | ||
| ENST00000534595.1:c.206G>A | ||
| NM_001308007.1:c.1137G>A | NP_001294936.1:p.Gly379= | |
| NM_003797.3:c.1062G>A | NP_003788.2:p.Gly354= | |
| NM_003797.4:c.1062G>A | NP_003788.2:p.Gly354= | |
| NM_152991.2:c.1062G>A | NP_694536.1:p.Gly354= | |
| XM_005274373.1:c.822G>A | XP_005274430.1:p.Gly274= | |
| XM_011545330.1:c.1137G>A | XP_011543632.1:p.Gly379= | |
| XM_011545331.1:c.1137G>A | XP_011543633.1:p.Gly379= | |
| XR_247215.2:n.1642G>A | ||
| NM_001330334.1:c.822G>A | NP_001317263.1:p.Gly274= | |
| XM_011545330.2:c.1137G>A | XP_011543632.1:p.Gly379= | |
| XM_011545331.2:c.1137G>A | XP_011543633.1:p.Gly379= | |
| XM_017018512.2:c.1062G>A | XP_016874001.1:p.Gly354= | |
| XM_017018513.2:c.822G>A | XP_016874002.1:p.Gly274= | |
| XR_001748022.2:n.1539G>A | ||
| XR_247215.4:n.1433G>A | ||
| NM_003797.5:c.1062G>A MANE Select | NP_003788.2:p.Gly354= | |
| NM_001308007.2:c.1137G>A | NP_001294936.1:p.Gly379= | |
| NM_001330334.2:c.822G>A | NP_001317263.1:p.Gly274= |