Linked Data
ClinVar Variation Id:
367195
dbSNP Id:
rs150095531
ExAC:
9:6595126 G / C
gnomAD v2:
9-6595126-G-C
gnomAD v3:
9-6595126-G-C
gnomAD v4:
9-6595126-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6595126G>C , CM000671.2:g.6595126G>C | GRCh38 |
| NC_000009.11:g.6595126G>C , CM000671.1:g.6595126G>C | GRCh37 |
| NC_000009.10:g.6585126G>C | NCBI36 |
| NG_016397.1:g.55567C>G , LRG_643:g.55567C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.1156-7C>G MANE Select | ENSP00000370737.4:n.1156-7C>G | |
| ENST00000638654.1:c.403-7C>G | ENSP00000491101.1:n.403-7C>G | |
| ENST00000639364.1:n.856-7C>G | ||
| ENST00000639443.1:n.724-7C>G | ||
| ENST00000639493.1:n.308-7C>G | ||
| ENST00000639954.1:n.864-7C>G | ||
| ENST00000640592.1:n.1039-7C>G | ||
| ENST00000321612.6:c.1156-7C>G | ENSP00000370737.3:n.1156-7C>G | |
| ENST00000463305.1:n.240-7C>G | ||
| NM_000170.2:c.1156-7C>G , LRG_643t1:c.1156-7C>G | NP_000161.2:n.1156-7C>G | |
| NM_000170.3:c.1156-7C>G MANE Select | NP_000161.2:n.1156-7C>G |