Linked Data
ClinVar Variation Id:
1622548
ClinVar RCV Id:
RCV002104230
dbSNP Id:
rs111033761
gnomAD v2:
9-34648848-G-A
gnomAD v3:
9-34648851-G-A
gnomAD v4:
9-34648851-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34648851G>A , CM000671.2:g.34648851G>A | GRCh38 |
| NC_000009.11:g.34648848G>A , CM000671.1:g.34648848G>A | GRCh37 |
| NC_000009.10:g.34638848G>A | NCBI36 |
| NG_028966.1:g.1667G>A | |
| NG_009029.2:g.7263G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691183.1:c.*365G>A | ENSP00000509954.1:n.*365G>A | |
| ENST00000378842.8:c.777G>A MANE Select | ENSP00000368119.4:p.Arg259= | |
| ENST00000378842.7:c.777G>A | ENSP00000368119.3:p.Arg259= | |
| ENST00000450095.6:c.450G>A | ENSP00000401956.2:p.Arg150= | |
| ENST00000473506.6:c.*365G>A | ENSP00000432839.2:n.*365G>A | |
| ENST00000489643.6:n.857G>A | ||
| ENST00000554085.5:c.*521G>A | ENSP00000450419.1:n.*521G>A | |
| ENST00000554550.5:c.*397G>A | ENSP00000451435.1:n.*397G>A | |
| ENST00000554638.5:n.1249G>A | ||
| ENST00000555020.5:n.1238G>A | ||
| ENST00000555086.5:n.781G>A | ||
| ENST00000555754.1:n.122G>A | ||
| ENST00000556244.1:c.764G>A | ||
| ENST00000556278.1:c.432+395G>A | ENSP00000451792.1:n.432+395G>A | |
| ENST00000557706.5:n.1339G>A | ||
| NM_000155.3:c.777G>A | NP_000146.2:p.Arg259= | |
| NM_001258332.1:c.450G>A | NP_001245261.1:p.Arg150= | |
| NM_000155.4:c.777G>A MANE Select | NP_000146.2:p.Arg259= | |
| NM_001258332.2:c.450G>A | NP_001245261.1:p.Arg150= |