Linked Data
ClinVar Variation Id:
972942
ClinVar RCV Id:
RCV001249238
dbSNP Id:
rs1251993950
gnomAD v2:
14-92583837-C-T
gnomAD v4:
14-92117493-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.92117493C>T , CM000676.2:g.92117493C>T | GRCh38 |
| NC_000014.8:g.92583837C>T , CM000676.1:g.92583837C>T | GRCh37 |
| NC_000014.7:g.91653590C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329559.8:c.140+5G>A | ENSP00000330787.4:n.140+5G>A | |
| ENST00000605997.6:c.140+5G>A MANE Select | ENSP00000475170.1:n.140+5G>A | |
| ENST00000329559.7:c.281+5G>A | ENSP00000330787.3:n.281+5G>A | |
| ENST00000553514.5:c.140+5G>A | ENSP00000451090.2:n.140+5G>A | |
| ENST00000553666.1:n.1229+5G>A | ||
| ENST00000555441.5:c.140+5G>A | ENSP00000450776.1:n.140+5G>A | |
| ENST00000605997.5:c.140+5G>A | ENSP00000475170.1:n.140+5G>A | |
| ENST00000617122.1:c.281+5G>A | ENSP00000483888.1:n.281+5G>A | |
| NM_004545.3:c.281+5G>A | NP_004536.2:n.281+5G>A | |
| NM_004545.4:c.140+5G>A MANE Select | NP_004536.3:n.140+5G>A |