Linked Data
ClinVar Variation Id:
446006
dbSNP Id:
rs143337739
gnomAD v2:
11-67803807-G-A
gnomAD v3:
11-68036340-G-A
gnomAD v4:
11-68036340-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68036340G>A , CM000673.2:g.68036340G>A | GRCh38 |
| NC_000011.9:g.67803807G>A , CM000673.1:g.67803807G>A | GRCh37 |
| NC_000011.8:g.67560383G>A | NCBI36 |
| NG_007878.1:g.2325G>A , LRG_115:g.2325G>A | |
| NG_017040.1:g.10724G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313468.10:c.460G>A MANE Select | ENSP00000315774.5:p.Gly154Ser | |
| ENST00000313468.9:c.460G>A | ENSP00000315774.5:p.Gly154Ser | |
| ENST00000524810.5:c.392G>A | ||
| ENST00000525419.5:c.406G>A | ENSP00000433521.1:p.Gly136Ser | |
| ENST00000526339.5:c.460G>A | ENSP00000436287.1:p.Gly154Ser | |
| ENST00000526446.5:c.*515G>A | ENSP00000433645.1:n.*515G>A | |
| ENST00000528492.1:c.22G>A | ENSP00000432848.1:p.Gly8Ser | |
| ENST00000531282.1:n.312G>A | ||
| NM_002496.3:c.460G>A | NP_002487.1:p.Gly154Ser | |
| XM_005274013.1:c.460G>A | XP_005274070.1:p.Gly154Ser | |
| XM_005274014.1:c.460G>A | XP_005274071.1:p.Gly154Ser | |
| XM_005274015.1:c.340G>A | XP_005274072.1:p.Gly114Ser | |
| XM_011545053.1:c.460G>A | XP_011543355.1:p.Gly154Ser | |
| NM_002496.4:c.460G>A MANE Select | NP_002487.1:p.Gly154Ser |