Linked Data
ClinVar Variation Id:
324963
ClinVar RCV Id:
RCV000344103
dbSNP Id:
rs201364732
ExAC:
17:71192905 C / T
gnomAD v2:
17-71192905-C-T
gnomAD v3:
17-73196766-C-T
gnomAD v4:
17-73196766-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.73196766C>T , CM000679.2:g.73196766C>T | GRCh38 |
| NC_000017.10:g.71192905C>T , CM000679.1:g.71192905C>T | GRCh37 |
| NC_000017.9:g.68704500C>T | NCBI36 |
| NG_008971.1:g.8733C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299886.9:c.560+15C>T MANE Select | ENSP00000299886.4:n.560+15C>T | |
| ENST00000299886.8:c.560+15C>T | ENSP00000299886.4:n.560+15C>T | |
| ENST00000438720.7:c.558+15C>T | ||
| ENST00000582587.2:c.557+15C>T | ||
| ENST00000618996.4:c.560+15C>T | ENSP00000479450.1:n.560+15C>T | |
| NM_018714.2:c.560+15C>T | NP_061184.1:n.560+15C>T | |
| NM_018714.3:c.560+15C>T MANE Select | NP_061184.1:n.560+15C>T |