Linked Data
ClinVar Variation Id:
370293
ClinVar RCV Id:
RCV000409519
dbSNP Id:
rs1057516379
gnomAD v4:
9-101429753-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.101429753A>T , CM000671.2:g.101429753A>T | GRCh38 |
| NC_000009.11:g.104192035A>T , CM000671.1:g.104192035A>T | GRCh37 |
| NC_000009.10:g.103231856A>T | NCBI36 |
| NG_012387.1:g.11028T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647789.2:c.324+2T>A MANE Select | ENSP00000497767.1:n.324+2T>A | |
| ENST00000648064.1:c.324+2T>A | ENSP00000497990.1:n.324+2T>A | |
| ENST00000648758.1:c.324+2T>A | ENSP00000497731.1:n.324+2T>A | |
| ENST00000648906.1:n.496T>A | ||
| ENST00000649902.1:c.324+2T>A | ENSP00000497216.1:n.324+2T>A | |
| ENST00000650613.1:n.402T>A | ||
| ENST00000374855.8:c.324+2T>A | ENSP00000363988.4:n.324+2T>A | |
| ENST00000468981.3:n.67+56T>A | ||
| ENST00000616752.1:c.324+2T>A | ENSP00000481363.1:n.324+2T>A | |
| NM_000035.3:c.324+2T>A | NP_000026.2:n.324+2T>A | |
| NM_000035.4:c.324+2T>A MANE Select | NP_000026.2:n.324+2T>A |