Linked Data
ClinVar Variation Id:
347022
dbSNP Id:
rs368989581
ExAC:
4:100510793 C / T
gnomAD v2:
4-100510793-C-T
gnomAD v3:
4-99589636-C-T
gnomAD v4:
4-99589636-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99589636C>T , CM000666.2:g.99589636C>T | GRCh38 |
| NC_000004.11:g.100510793C>T , CM000666.1:g.100510793C>T | GRCh37 |
| NC_000004.10:g.100729816C>T | NCBI36 |
| NG_011469.1:g.30554C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265517.10:c.394-7C>T MANE Select | ENSP00000265517.5:n.394-7C>T | |
| ENST00000457717.6:c.394-7C>T | ENSP00000400821.1:n.394-7C>T | |
| ENST00000511045.6:c.145-7C>T | ENSP00000427679.2:n.145-7C>T | |
| ENST00000265517.9:c.394-7C>T | ENSP00000265517.5:n.394-7C>T | |
| ENST00000457717.5:c.394-7C>T | ENSP00000400821.1:n.394-7C>T | |
| ENST00000506883.5:c.424-7C>T | ENSP00000426755.1:n.424-7C>T | |
| ENST00000511045.5:c.475-7C>T | ENSP00000427679.1:n.475-7C>T | |
| ENST00000619629.1:c.394-7C>T | ENSP00000482850.1:n.394-7C>T | |
| NM_000253.3:c.394-7C>T | NP_000244.2:n.394-7C>T | |
| NM_001300785.1:c.475-7C>T | NP_001287714.1:n.475-7C>T | |
| NM_000253.4:c.394-7C>T | NP_000244.2:n.394-7C>T | |
| NM_001300785.2:c.145-7C>T | NP_001287714.2:n.145-7C>T | |
| NM_001386140.1:c.394-7C>T MANE Select | NP_001373069.1:n.394-7C>T |