Linked Data
ClinVar Variation Id:
190153
ClinVar RCV Id:
RCV000170371
RCV000302397
RCV000357202
RCV000404616
RCV001514006
RCV001657935
RCV001657936
RCV001657937
RCV001657938
dbSNP Id:
rs4253132
ExAC:
10:50701156 G / A
gnomAD v2:
10-50701156-G-A
gnomAD v3:
10-49493110-G-A
gnomAD v4:
10-49493110-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49493110G>A , CM000672.2:g.49493110G>A | GRCh38 |
| NC_000010.10:g.50701156G>A , CM000672.1:g.50701156G>A | GRCh37 |
| NC_000010.9:g.50371162G>A | NCBI36 |
| NG_009442.1:g.50992C>T , LRG_465:g.50992C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355832.10:c.1821+7C>T MANE Select | ENSP00000348089.5:n.1821+7C>T | |
| ENST00000681632.1:n.1899+7C>T | ||
| ENST00000681659.1:c.1662+7C>T | ENSP00000505631.1:n.1662+7C>T | |
| ENST00000355832.9:c.1821+7C>T | ENSP00000348089.5:n.1821+7C>T | |
| ENST00000475116.1:n.275+7428C>T | ||
| ENST00000623073.3:c.222+7C>T | ENSP00000485650.1:n.222+7C>T | |
| ENST00000623115.3:c.-70+7428C>T | ENSP00000485321.1:n.-70+7428C>T | |
| ENST00000623318.1:c.222+7C>T | ENSP00000485423.1:n.222+7C>T | |
| NM_000124.3:c.1821+7C>T | NP_000115.1:n.1821+7C>T | |
| NM_001346440.1:c.1821+7C>T | NP_001333369.1:n.1821+7C>T | |
| NM_000124.4:c.1821+7C>T MANE Select | NP_000115.1:n.1821+7C>T | |
| NM_001346440.2:c.1821+7C>T | NP_001333369.1:n.1821+7C>T |