Linked Data
ClinVar Variation Id:
1534131
ClinVar RCV Id:
RCV002082891
dbSNP Id:
rs1420894866
gnomAD v2:
5-151208640-G-T
gnomAD v3:
5-151829079-G-T
gnomAD v4:
5-151829079-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151829079G>T , CM000667.2:g.151829079G>T | GRCh38 |
| NC_000005.9:g.151208640G>T , CM000667.1:g.151208640G>T | GRCh37 |
| NC_000005.8:g.151188833G>T | NCBI36 |
| NG_011764.1:g.100758C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274576.9:c.913-12C>A MANE Select | ENSP00000274576.5:n.913-12C>A | |
| ENST00000274576.8:c.913-12C>A | ENSP00000274576.4:n.913-12C>A | |
| ENST00000455880.2:c.913-12C>A | ENSP00000411593.2:n.913-12C>A | |
| ENST00000462581.6:c.*671-12C>A | ENSP00000430595.1:n.*671-12C>A | |
| NM_000171.3:c.913-12C>A | NP_000162.2:n.913-12C>A | |
| NM_001146040.1:c.913-12C>A | NP_001139512.1:n.913-12C>A | |
| NM_001292000.1:c.664-12C>A | NP_001278929.1:n.664-12C>A | |
| NM_000171.4:c.913-12C>A MANE Select | NP_000162.2:n.913-12C>A | |
| NM_001146040.2:c.913-12C>A | NP_001139512.1:n.913-12C>A | |
| NM_001292000.2:c.664-12C>A | NP_001278929.1:n.664-12C>A |