Linked Data
ClinVar Variation Id:
364252
ClinVar RCV Id:
RCV000308325
dbSNP Id:
rs886063281
gnomAD v4:
9-101360853-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.101360853A>C , CM000671.2:g.101360853A>C | GRCh38 |
| NC_000009.11:g.104123135A>C , CM000671.1:g.104123135A>C | GRCh37 |
| NC_000009.10:g.103162956A>C | NCBI36 |
| NG_009774.1:g.29153T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259407.7:c.*1575T>G MANE Select | ENSP00000259407.2:n.*1575T>G | |
| ENST00000674791.1:c.762+2070T>G | ENSP00000501644.1:n.762+2070T>G | |
| ENST00000674909.1:c.804+2028T>G | ENSP00000502812.1:n.804+2028T>G | |
| ENST00000259407.6:c.*1575T>G | ENSP00000259407.2:n.*1575T>G | |
| ENST00000447628.2:n.1191A>C | ||
| NM_001127610.1:c.*1575T>G | NP_001121082.1:n.*1575T>G | |
| NM_001701.3:c.*1575T>G | NP_001692.1:n.*1575T>G | |
| NM_001127610.2:c.*1575T>G | NP_001121082.1:n.*1575T>G | |
| NM_001374715.1:c.*1575T>G | NP_001361644.1:n.*1575T>G | |
| NM_001701.4:c.*1575T>G MANE Select | NP_001692.1:n.*1575T>G |