Linked Data
ClinVar Variation Id:
364256
ClinVar RCV Id:
RCV000358836
dbSNP Id:
rs550241219
gnomAD v3:
9-101361210-T-C
gnomAD v4:
9-101361210-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.101361210T>C , CM000671.2:g.101361210T>C | GRCh38 |
| NC_000009.11:g.104123492T>C , CM000671.1:g.104123492T>C | GRCh37 |
| NC_000009.10:g.103163313T>C | NCBI36 |
| NG_009774.1:g.28796A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259407.7:c.*1218A>G MANE Select | ENSP00000259407.2:n.*1218A>G | |
| ENST00000674791.1:c.762+1713A>G | ENSP00000501644.1:n.762+1713A>G | |
| ENST00000674909.1:c.804+1671A>G | ENSP00000502812.1:n.804+1671A>G | |
| ENST00000259407.6:c.*1218A>G | ENSP00000259407.2:n.*1218A>G | |
| ENST00000447628.2:n.1548T>C | ||
| NM_001127610.1:c.*1218A>G | NP_001121082.1:n.*1218A>G | |
| NM_001701.3:c.*1218A>G | NP_001692.1:n.*1218A>G | |
| NM_001127610.2:c.*1218A>G | NP_001121082.1:n.*1218A>G | |
| NM_001374715.1:c.*1218A>G | NP_001361644.1:n.*1218A>G | |
| NM_001701.4:c.*1218A>G MANE Select | NP_001692.1:n.*1218A>G |