Linked Data
ClinVar Variation Id:
364255
ClinVar RCV Id:
RCV000302555
dbSNP Id:
rs755320451
gnomAD v2:
9-104123394-T-G
gnomAD v3:
9-101361112-T-G
gnomAD v4:
9-101361112-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.101361112T>G , CM000671.2:g.101361112T>G | GRCh38 |
| NC_000009.11:g.104123394T>G , CM000671.1:g.104123394T>G | GRCh37 |
| NC_000009.10:g.103163215T>G | NCBI36 |
| NG_009774.1:g.28894A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259407.7:c.*1316A>C MANE Select | ENSP00000259407.2:n.*1316A>C | |
| ENST00000674791.1:c.762+1811A>C | ENSP00000501644.1:n.762+1811A>C | |
| ENST00000674909.1:c.804+1769A>C | ENSP00000502812.1:n.804+1769A>C | |
| ENST00000259407.6:c.*1316A>C | ENSP00000259407.2:n.*1316A>C | |
| ENST00000447628.2:n.1450T>G | ||
| NM_001127610.1:c.*1316A>C | NP_001121082.1:n.*1316A>C | |
| NM_001701.3:c.*1316A>C | NP_001692.1:n.*1316A>C | |
| NM_001127610.2:c.*1316A>C | NP_001121082.1:n.*1316A>C | |
| NM_001374715.1:c.*1316A>C | NP_001361644.1:n.*1316A>C | |
| NM_001701.4:c.*1316A>C MANE Select | NP_001692.1:n.*1316A>C |