Linked Data
ClinVar Variation Id:
1662194
ClinVar RCV Id:
RCV002179102
dbSNP Id:
rs4253196
gnomAD v2:
10-50681659-T-G
gnomAD v3:
10-49473613-T-G
gnomAD v4:
10-49473613-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49473613T>G , CM000672.2:g.49473613T>G | GRCh38 |
| NC_000010.10:g.50681659T>G , CM000672.1:g.50681659T>G | GRCh37 |
| NC_000010.9:g.50351665T>G | NCBI36 |
| NG_009442.1:g.70489A>C , LRG_465:g.70489A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355832.10:c.2599-26A>C MANE Select | ENSP00000348089.5:n.2599-26A>C | |
| ENST00000681632.1:n.3090A>C | ||
| ENST00000681659.1:c.2440-26A>C | ENSP00000505631.1:n.2440-26A>C | |
| ENST00000355832.9:c.2599-26A>C | ENSP00000348089.5:n.2599-26A>C | |
| ENST00000623073.3:c.*895-26A>C | ENSP00000485650.1:n.*895-26A>C | |
| ENST00000623115.3:c.709-26A>C | ENSP00000485321.1:n.709-26A>C | |
| ENST00000624341.3:c.431-26A>C | ||
| NM_000124.3:c.2599-26A>C | NP_000115.1:n.2599-26A>C | |
| NM_001346440.1:c.2599-26A>C | NP_001333369.1:n.2599-26A>C | |
| NM_000124.4:c.2599-26A>C MANE Select | NP_000115.1:n.2599-26A>C | |
| NM_001346440.2:c.2599-26A>C | NP_001333369.1:n.2599-26A>C |