Linked Data
ClinVar Variation Id:
1658358
ClinVar RCV Id:
RCV002171925
dbSNP Id:
rs187370615
ExAC:
9:6556134 G / A
gnomAD v2:
9-6556134-G-A
gnomAD v3:
9-6556134-G-A
gnomAD v4:
9-6556134-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6556134G>A , CM000671.2:g.6556134G>A | GRCh38 |
| NC_000009.11:g.6556134G>A , CM000671.1:g.6556134G>A | GRCh37 |
| NC_000009.10:g.6546134G>A | NCBI36 |
| NG_016397.1:g.94559C>T , LRG_643:g.94559C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.2202+19C>T MANE Select | ENSP00000370737.4:n.2202+19C>T | |
| ENST00000638233.1:n.637+19C>T | ||
| ENST00000638661.1:c.402+19C>T | ENSP00000491369.1:n.402+19C>T | |
| ENST00000638694.1:n.389+19C>T | ||
| ENST00000639318.1:c.402+19C>T | ENSP00000491932.1:n.402+19C>T | |
| ENST00000639364.1:n.1902+19C>T | ||
| ENST00000639443.1:n.1770+19C>T | ||
| ENST00000639954.1:n.1910+19C>T | ||
| ENST00000640505.1:n.441+19C>T | ||
| ENST00000321612.6:c.2202+19C>T | ENSP00000370737.3:n.2202+19C>T | |
| NM_000170.2:c.2202+19C>T , LRG_643t1:c.2202+19C>T | NP_000161.2:n.2202+19C>T | |
| NM_000170.3:c.2202+19C>T MANE Select | NP_000161.2:n.2202+19C>T |