Linked Data
ClinVar Variation Id:
56093
ClinVar RCV Id:
RCV000049502
dbSNP Id:
rs386833575
ExAC:
9:6534707 C / T
gnomAD v2:
9-6534707-C-T
gnomAD v3:
9-6534707-C-T
gnomAD v4:
9-6534707-C-T
PubMed:
PMID:16601880
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6534707C>T , CM000671.2:g.6534707C>T | GRCh38 |
| NC_000009.11:g.6534707C>T , CM000671.1:g.6534707C>T | GRCh37 |
| NC_000009.10:g.6524707C>T | NCBI36 |
| NG_016397.1:g.115986G>A , LRG_643:g.115986G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.2919+1G>A MANE Select | ENSP00000370737.4:n.2919+1G>A | |
| ENST00000638233.1:n.1354+1G>A | ||
| ENST00000638274.1:c.71+1G>A | ||
| ENST00000638661.1:c.1119+1G>A | ENSP00000491369.1:n.1119+1G>A | |
| ENST00000638694.1:n.1106+1G>A | ||
| ENST00000639318.1:c.1023+1G>A | ENSP00000491932.1:n.1023+1G>A | |
| ENST00000639364.1:n.2619+1G>A | ||
| ENST00000639443.1:n.2487+1G>A | ||
| ENST00000639461.1:n.2020+1G>A | ||
| ENST00000639639.1:c.621+1G>A | ENSP00000491312.1:n.621+1G>A | |
| ENST00000639954.1:n.2627+1G>A | ||
| ENST00000640505.1:n.1158+1G>A | ||
| ENST00000321612.6:c.2919+1G>A | ENSP00000370737.3:n.2919+1G>A | |
| ENST00000477960.1:n.500+1G>A | ||
| NM_000170.2:c.2919+1G>A , LRG_643t1:c.2919+1G>A | NP_000161.2:n.2919+1G>A | |
| NM_000170.3:c.2919+1G>A MANE Select | NP_000161.2:n.2919+1G>A |