Linked Data
ClinVar Variation Id:
218380
ClinVar RCV Id:
RCV000202622
dbSNP Id:
rs764826805
ExAC:
9:104192036 C / T
gnomAD v2:
9-104192036-C-T
gnomAD v4:
9-101429754-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.101429754C>T , CM000671.2:g.101429754C>T | GRCh38 |
| NC_000009.11:g.104192036C>T , CM000671.1:g.104192036C>T | GRCh37 |
| NC_000009.10:g.103231857C>T | NCBI36 |
| NG_012387.1:g.11027G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647789.2:c.324+1G>A MANE Select | ENSP00000497767.1:n.324+1G>A | |
| ENST00000648064.1:c.324+1G>A | ENSP00000497990.1:n.324+1G>A | |
| ENST00000648758.1:c.324+1G>A | ENSP00000497731.1:n.324+1G>A | |
| ENST00000648906.1:n.495G>A | ||
| ENST00000649902.1:c.324+1G>A | ENSP00000497216.1:n.324+1G>A | |
| ENST00000650613.1:n.401G>A | ||
| ENST00000374855.8:c.324+1G>A | ENSP00000363988.4:n.324+1G>A | |
| ENST00000468981.3:n.67+55G>A | ||
| ENST00000616752.1:c.324+1G>A | ENSP00000481363.1:n.324+1G>A | |
| NM_000035.3:c.324+1G>A | NP_000026.2:n.324+1G>A | |
| NM_000035.4:c.324+1G>A MANE Select | NP_000026.2:n.324+1G>A |