Linked Data
ClinVar Variation Id:
1606837
ClinVar RCV Id:
RCV002162527
dbSNP Id:
rs755816605
ExAC:
7:116399451 G / A
gnomAD v2:
7-116399451-G-A
gnomAD v4:
7-116759397-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.116759397G>A , CM000669.2:g.116759397G>A | GRCh38 |
| NC_000007.13:g.116399451G>A , CM000669.1:g.116399451G>A | GRCh37 |
| NC_000007.12:g.116186687G>A | NCBI36 |
| NG_008996.1:g.91993G>A , LRG_662:g.91993G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000422097.2:c.2271G>A | ENSP00000398776.2:p.Gly757= | |
| ENST00000436117.3:c.2264+777G>A | ENSP00000410980.2:n.2264+777G>A | |
| ENST00000318493.11:c.2325G>A | ENSP00000317272.6:p.Gly775= | |
| ENST00000397752.8:c.2271G>A MANE Select | ENSP00000380860.3:p.Gly757= | |
| ENST00000318493.10:c.2325G>A | ENSP00000317272.6:p.Gly775= | |
| ENST00000397752.7:c.2271G>A | ENSP00000380860.3:p.Gly757= | |
| ENST00000422097.1:c.111G>A | ENSP00000398776.1:p.Gly37= | |
| ENST00000436117.2:c.2264+777G>A | ENSP00000410980.2:n.2264+777G>A | |
| NM_000245.2:c.2271G>A | NP_000236.2:p.Gly757= | |
| NM_001127500.1:c.2325G>A , LRG_662t1:c.2325G>A | NP_001120972.1:p.Gly775= | |
| XM_006715990.2:c.981G>A | XP_006716053.1:p.Gly327= | |
| XM_006715991.2:c.981G>A | XP_006716054.1:p.Gly327= | |
| XM_011516223.1:c.2328G>A | XP_011514525.1:p.Gly776= | |
| NM_000245.3:c.2271G>A | NP_000236.2:p.Gly757= | |
| NM_001127500.2:c.2325G>A | NP_001120972.1:p.Gly775= | |
| NM_001324401.1:c.2271G>A | NP_001311330.1:p.Gly757= | |
| NM_001324402.1:c.981G>A | NP_001311331.1:p.Gly327= | |
| XR_001744772.1:n.2495+777G>A | ||
| NM_001127500.3:c.2325G>A | NP_001120972.1:p.Gly775= | |
| NM_000245.4:c.2271G>A MANE Select | NP_000236.2:p.Gly757= | |
| NM_001324401.2:c.2271G>A | NP_001311330.1:p.Gly757= | |
| NM_001324402.2:c.981G>A | NP_001311331.1:p.Gly327= | |
| NM_001324401.3:c.2271G>A | NP_001311330.1:p.Gly757= |