Linked Data
ClinVar Variation Id:
1434186
ClinVar RCV Id:
RCV001962382
dbSNP Id:
rs189159117
ExAC:
4:178358607 T / C
gnomAD v2:
4-178358607-T-C
gnomAD v3:
4-177437453-T-C
gnomAD v4:
4-177437453-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.177437453T>C , CM000666.2:g.177437453T>C | GRCh38 |
| NC_000004.11:g.178358607T>C , CM000666.1:g.178358607T>C | GRCh37 |
| NC_000004.10:g.178595601T>C | NCBI36 |
| NG_011845.2:g.10051A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264595.7:c.574A>G MANE Select | ENSP00000264595.2:p.Ile192Val | |
| ENST00000264595.6:c.574A>G | ENSP00000264595.2:p.Ile192Val | |
| ENST00000502310.5:c.229A>G | ENSP00000423798.1:p.Ile77Val | |
| ENST00000506853.5:n.608A>G | ||
| ENST00000510635.1:c.270A>G | ||
| ENST00000510955.5:n.495A>G | ||
| NM_000027.3:c.574A>G | NP_000018.2:p.Ile192Val | |
| NM_001171988.1:c.574A>G | NP_001165459.1:p.Ile192Val | |
| NR_033655.1:n.702A>G | ||
| XM_006714123.2:c.574A>G | XP_006714186.1:p.Ile192Val | |
| XR_001741155.2:n.668A>G | ||
| NM_000027.4:c.574A>G MANE Select | NP_000018.2:p.Ile192Val | |
| NM_001171988.2:c.574A>G | NP_001165459.1:p.Ile192Val | |
| NR_033655.2:n.636A>G |