Linked Data
ClinVar Variation Id:
2798660
ClinVar RCV Id:
RCV003745875
dbSNP Id:
rs1171004816
gnomAD v3:
3-53184890-G-A
gnomAD v4:
3-53184890-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.53184890G>A , CM000665.2:g.53184890G>A | GRCh38 |
| NC_000003.11:g.53218906G>A , CM000665.1:g.53218906G>A | GRCh37 |
| NC_000003.10:g.53193946G>A | NCBI36 |
| NG_033864.1:g.28684G>A | |
| NG_033864.2:g.33882G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697588.1:c.804G>A | ENSP00000513355.1:p.Val268= | |
| ENST00000697589.1:n.808G>A | ||
| ENST00000330452.8:c.804G>A MANE Select | ENSP00000331602.3:p.Val268= | |
| ENST00000650739.1:c.804G>A | ENSP00000498623.1:p.Val268= | |
| ENST00000650940.1:c.804G>A | ENSP00000499184.1:p.Val268= | |
| ENST00000651505.1:c.545G>A | ||
| ENST00000652449.1:c.804G>A | ENSP00000498400.1:p.Val268= | |
| ENST00000654719.1:c.804G>A | ENSP00000499558.1:p.Val268= | |
| ENST00000330452.7:c.804G>A | ENSP00000331602.3:p.Val268= | |
| ENST00000394729.6:c.804G>A | ENSP00000378217.2:p.Val268= | |
| ENST00000464818.1:c.588G>A | ENSP00000419629.1:p.Val196= | |
| NM_001316327.1:c.804G>A | NP_001303256.1:p.Val268= | |
| NM_006254.3:c.804G>A | NP_006245.2:p.Val268= | |
| NM_212539.1:c.804G>A | NP_997704.1:p.Val268= | |
| XM_006713257.2:c.852G>A | XP_006713320.1:p.Val284= | |
| XM_006713259.2:c.804G>A | XP_006713322.1:p.Val268= | |
| XR_940474.1:n.823G>A | ||
| NM_001354676.1:c.861G>A | NP_001341605.1:p.Val287= | |
| NM_001354678.1:c.852G>A | NP_001341607.1:p.Val284= | |
| NM_001354679.1:c.804G>A | NP_001341608.1:p.Val268= | |
| NM_001354680.1:c.804G>A | NP_001341609.1:p.Val268= | |
| XR_002959550.1:n.876G>A | ||
| NM_006254.4:c.804G>A MANE Select | NP_006245.2:p.Val268= | |
| NM_001316327.2:c.804G>A | NP_001303256.1:p.Val268= | |
| NM_001354676.2:c.861G>A | NP_001341605.1:p.Val287= | |
| NM_001354678.2:c.852G>A | NP_001341607.1:p.Val284= | |
| NM_001354679.2:c.804G>A | NP_001341608.1:p.Val268= | |
| NM_001354680.2:c.804G>A | NP_001341609.1:p.Val268= | |
| NM_212539.2:c.804G>A | NP_997704.1:p.Val268= |