Linked Data
ClinVar Variation Id:
727866
ClinVar RCV Id:
RCV000902262
dbSNP Id:
rs190360172
ExAC:
17:4534943 G / C
gnomAD v2:
17-4534943-G-C
gnomAD v3:
17-4631648-G-C
gnomAD v4:
17-4631648-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4631648G>C , CM000679.2:g.4631648G>C | GRCh38 |
| NC_000017.10:g.4534943G>C , CM000679.1:g.4534943G>C | GRCh37 |
| NC_000017.9:g.4481692G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293761.8:c.1941C>G MANE Select | ENSP00000293761.3:p.Pro647= | |
| ENST00000570836.6:c.1941C>G | ENSP00000458832.1:p.Pro647= | |
| ENST00000293761.7:c.1941C>G | ENSP00000293761.3:p.Pro647= | |
| ENST00000570836.5:c.1941C>G | ENSP00000458832.1:p.Pro647= | |
| ENST00000574640.1:c.1824C>G | ENSP00000460483.1:p.Pro608= | |
| NM_001140.3:c.1941C>G | NP_001131.3:p.Pro647= | |
| NM_001140.4:c.1941C>G | NP_001131.3:p.Pro647= | |
| NM_001140.5:c.1941C>G MANE Select | NP_001131.3:p.Pro647= |