Linked Data
ClinVar Variation Id:
1274160
ClinVar RCV Id:
RCV001685148
dbSNP Id:
rs4787273
gnomAD v2:
16-2349760-G-T
gnomAD v3:
16-2299759-G-T
gnomAD v4:
16-2299759-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2299759G>T , CM000678.2:g.2299759G>T | GRCh38 |
| NC_000016.9:g.2349760G>T , CM000678.1:g.2349760G>T | GRCh37 |
| NC_000016.8:g.2289761G>T | NCBI36 |
| NG_011790.1:g.45988C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000301732.10:c.1612-227C>A MANE Select | ENSP00000301732.5:n.1612-227C>A | |
| ENST00000301732.9:c.1612-227C>A | ENSP00000301732.5:n.1612-227C>A | |
| ENST00000382381.7:c.1438-227C>A | ENSP00000371818.3:n.1438-227C>A | |
| ENST00000563623.5:n.2175-227C>A | ||
| NM_001089.2:c.1612-227C>A | NP_001080.2:n.1612-227C>A | |
| NM_001089.3:c.1612-227C>A MANE Select | NP_001080.2:n.1612-227C>A |