Linked Data
ClinVar Variation Id:
1163174
ClinVar RCV Id:
RCV001508013
dbSNP Id:
rs2101924603
gnomAD v4:
1-160041502-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160041502T>C , CM000663.2:g.160041502T>C | GRCh38 |
| NC_000001.10:g.160011292T>C , CM000663.1:g.160011292T>C | GRCh37 |
| NC_000001.9:g.158277916T>C | NCBI36 |
| NG_016411.1:g.33670A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000509700.2:c.671+332A>G | ||
| ENST00000636689.1:n.95-2154A>G | ||
| ENST00000637644.1:c.487+544A>G | ENSP00000490282.1:n.487+544A>G | |
| ENST00000638728.1:c.1031A>G | ENSP00000492619.1:p.Asp344Gly | |
| ENST00000638840.1:c.753A>G | ||
| ENST00000638868.1:c.1031A>G | ENSP00000491250.1:p.Asp344Gly | |
| ENST00000639408.1:c.487+544A>G | ENSP00000491635.1:n.487+544A>G | |
| ENST00000640017.1:c.669+332A>G | ENSP00000491337.1:n.669+332A>G | |
| ENST00000640914.1:c.124+332A>G | ||
| ENST00000644903.1:c.1031A>G MANE Select | ENSP00000495557.1:p.Asp344Gly | |
| ENST00000368089.3:c.1031A>G | ENSP00000357068.3:p.Asp344Gly | |
| ENST00000509700.1:n.462+332A>G | ||
| NM_002241.4:c.1031A>G | NP_002232.2:p.Asp344Gly | |
| NM_002241.5:c.1031A>G MANE Select | NP_002232.2:p.Asp344Gly |