Linked Data
ClinVar Variation Id:
235279
ClinVar RCV Id:
RCV000224106
dbSNP Id:
rs878852999
gnomAD v4:
3-180988230-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.180988230C>T , CM000665.2:g.180988230C>T | GRCh38 |
| NC_000003.11:g.180706018C>T , CM000665.1:g.180706018C>T | GRCh37 |
| NC_000003.10:g.182188712C>T | NCBI36 |
| NG_022933.1:g.6545G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000478723.6:n.75-1G>A | ||
| ENST00000482363.2:n.171-1G>A | ||
| ENST00000485675.2:n.165-1G>A | ||
| ENST00000688055.1:c.4-1G>A | ENSP00000508688.1:n.4-1G>A | |
| ENST00000382564.8:c.4-1G>A MANE Select | ENSP00000372005.2:n.4-1G>A | |
| ENST00000643241.1:c.-72-1G>A | ENSP00000496401.1:n.-72-1G>A | |
| ENST00000646965.1:c.-47+1370G>A | ENSP00000496456.1:n.-47+1370G>A | |
| ENST00000382564.6:c.4-1G>A | ENSP00000372005.2:n.4-1G>A | |
| ENST00000469657.5:c.4-1G>A | ENSP00000418058.1:n.4-1G>A | |
| ENST00000472504.1:n.176-1G>A | ||
| ENST00000478723.5:n.143-1G>A | ||
| ENST00000479269.5:c.-72-1G>A | ENSP00000419191.1:n.-72-1G>A | |
| ENST00000482363.1:n.165-1G>A | ||
| ENST00000485675.1:n.129-134G>A | ||
| ENST00000486355.1:c.4-1G>A | ENSP00000419991.1:n.4-1G>A | |
| ENST00000491873.5:c.-20-134G>A | ENSP00000420767.1:n.-20-134G>A | |
| NM_001190233.1:c.-72-1G>A | NP_001177162.1:n.-72-1G>A | |
| NM_145261.3:c.4-1G>A | NP_660304.1:n.4-1G>A | |
| NR_033721.1:n.176-134G>A | ||
| NR_033722.1:n.176-1G>A | ||
| NR_033723.1:n.176-1G>A | ||
| NR_046073.1:n.175+1370G>A | ||
| NM_145261.4:c.4-1G>A MANE Select | NP_660304.1:n.4-1G>A | |
| NM_001190233.2:c.-72-1G>A | NP_001177162.1:n.-72-1G>A | |
| NR_033721.2:n.138-134G>A | ||
| NR_033722.2:n.138-1G>A |