Linked Data
ClinVar Variation Id:
421932
dbSNP Id:
rs768091555
ExAC:
9:6534703 C / A
gnomAD v2:
9-6534703-C-A
gnomAD v4:
9-6534703-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6534703C>A , CM000671.2:g.6534703C>A | GRCh38 |
| NC_000009.11:g.6534703C>A , CM000671.1:g.6534703C>A | GRCh37 |
| NC_000009.10:g.6524703C>A | NCBI36 |
| NG_016397.1:g.115990G>T , LRG_643:g.115990G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.2919+5G>T MANE Select | ENSP00000370737.4:n.2919+5G>T | |
| ENST00000638233.1:n.1354+5G>T | ||
| ENST00000638274.1:c.71+5G>T | ||
| ENST00000638661.1:c.1119+5G>T | ENSP00000491369.1:n.1119+5G>T | |
| ENST00000638694.1:n.1106+5G>T | ||
| ENST00000639318.1:c.1023+5G>T | ENSP00000491932.1:n.1023+5G>T | |
| ENST00000639364.1:n.2619+5G>T | ||
| ENST00000639443.1:n.2487+5G>T | ||
| ENST00000639461.1:n.2020+5G>T | ||
| ENST00000639639.1:c.621+5G>T | ENSP00000491312.1:n.621+5G>T | |
| ENST00000639954.1:n.2627+5G>T | ||
| ENST00000640505.1:n.1158+5G>T | ||
| ENST00000321612.6:c.2919+5G>T | ENSP00000370737.3:n.2919+5G>T | |
| ENST00000477960.1:n.500+5G>T | ||
| NM_000170.2:c.2919+5G>T , LRG_643t1:c.2919+5G>T | NP_000161.2:n.2919+5G>T | |
| NM_000170.3:c.2919+5G>T MANE Select | NP_000161.2:n.2919+5G>T |