Linked Data
ClinVar Variation Id:
265788
dbSNP Id:
rs201787275
ExAC:
17:8076762 G / A
gnomAD v2:
17-8076762-G-A
gnomAD v3:
17-8173444-G-A
gnomAD v4:
17-8173444-G-A
PubMed:
PMID:27571260
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8173444G>A , CM000679.2:g.8173444G>A | GRCh38 |
| NC_000017.10:g.8076762G>A , CM000679.1:g.8076762G>A | GRCh37 |
| NC_000017.9:g.8017487G>A | NCBI36 |
| NG_054916.1:g.7968C>T | |
| NG_056674.1:g.5145C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000437139.7:c.*759C>T MANE Select | ENSP00000402732.2:n.*759C>T | |
| ENST00000449985.6:c.*808C>T | ENSP00000404753.2:n.*808C>T | |
| NM_032354.3:c.*759C>T | NP_115730.2:n.*759C>T | |
| NM_183065.2:c.*759C>T | NP_898888.1:n.*759C>T | |
| NM_001351278.1:c.*759C>T | NP_001338207.1:n.*759C>T | |
| NM_001351279.1:c.*759C>T | NP_001338208.1:n.*759C>T | |
| NM_001351280.1:c.*759C>T | NP_001338209.1:n.*759C>T | |
| NM_032354.4:c.*759C>T | NP_115730.2:n.*759C>T | |
| NM_183065.3:c.*759C>T | NP_898888.1:n.*759C>T | |
| NR_147092.1:n.1041C>T | ||
| NM_001351278.2:c.*759C>T | NP_001338207.1:n.*759C>T | |
| NM_001351279.2:c.*759C>T | NP_001338208.1:n.*759C>T | |
| NM_001351280.2:c.*759C>T | NP_001338209.1:n.*759C>T | |
| NM_032354.5:c.*759C>T | NP_115730.2:n.*759C>T | |
| NM_183065.4:c.*759C>T MANE Select | NP_898888.1:n.*759C>T | |
| NR_147092.2:n.1010C>T |