Linked Data
ClinVar Variation Id:
214964
dbSNP Id:
rs200866298
ExAC:
11:35006145 A / G
gnomAD v2:
11-35006145-A-G
gnomAD v3:
11-34984598-A-G
gnomAD v4:
11-34984598-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.34984598A>G , CM000673.2:g.34984598A>G | GRCh38 |
| NC_000011.9:g.35006145A>G , CM000673.1:g.35006145A>G | GRCh37 |
| NC_000011.8:g.34962721A>G | NCBI36 |
| NG_013368.1:g.73469A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000448838.8:c.872A>G | ENSP00000389404.3:p.Asp291Gly | |
| ENST00000227868.9:c.1052A>G MANE Select | ENSP00000227868.4:p.Asp351Gly | |
| ENST00000227868.8:c.1052A>G | ENSP00000227868.4:p.Asp351Gly | |
| ENST00000430469.6:c.371A>G | ENSP00000415695.2:p.Asp124Gly | |
| ENST00000448838.7:c.1007A>G | ENSP00000389404.2:p.Asp336Gly | |
| ENST00000526309.1:c.115A>G | ||
| ENST00000532159.1:n.277A>G | ||
| NM_001135024.1:c.1007A>G | NP_001128496.1:p.Asp336Gly | |
| NM_001166158.1:c.371A>G | NP_001159630.1:p.Asp124Gly | |
| NM_003477.2:c.1052A>G | NP_003468.2:p.Asp351Gly | |
| XM_011520390.1:c.872A>G | XP_011518692.1:p.Asp291Gly | |
| NM_003477.3:c.1052A>G MANE Select | NP_003468.2:p.Asp351Gly | |
| NM_001135024.2:c.872A>G | NP_001128496.2:p.Asp291Gly | |
| NM_001166158.2:c.371A>G | NP_001159630.1:p.Asp124Gly |