Linked Data
ClinVar Variation Id:
1294617
ClinVar RCV Id:
RCV001720521
dbSNP Id:
rs72914882
ExAC:
17:76422372 T / C
gnomAD v2:
17-76422372-T-C
gnomAD v3:
17-78426291-T-C
gnomAD v4:
17-78426291-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.78426291T>C , CM000679.2:g.78426291T>C | GRCh38 |
| NC_000017.10:g.76422372T>C , CM000679.1:g.76422372T>C | GRCh37 |
| NC_000017.9:g.73933967T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389840.7:c.12915+166A>G MANE Select | ENSP00000374490.6:n.12915+166A>G | |
| ENST00000389840.6:c.12915+166A>G | ENSP00000374490.6:n.12915+166A>G | |
| ENST00000585328.5:c.12900+166A>G | ENSP00000465516.1:n.12900+166A>G | |
| ENST00000586052.5:n.6076+166A>G | ||
| ENST00000590227.5:n.2589+166A>G | ||
| ENST00000591369.5:c.4517+166A>G | ||
| ENST00000591647.1:n.264+166A>G | ||
| NM_173628.3:c.12915+166A>G | NP_775899.3:n.12915+166A>G | |
| XM_011525416.1:c.12927+166A>G | XP_011523718.1:n.12927+166A>G | |
| XM_011525418.1:c.6294+166A>G | XP_011523720.1:n.6294+166A>G | |
| XM_011525416.2:c.12927+166A>G | XP_011523718.1:n.12927+166A>G | |
| XM_017025261.2:c.6261+166A>G | XP_016880750.1:n.6261+166A>G | |
| XM_024451013.1:c.12783+166A>G | XP_024306781.1:n.12783+166A>G | |
| NM_173628.4:c.12915+166A>G MANE Select | NP_775899.3:n.12915+166A>G |