Linked Data
ClinVar Variation Id:
167150
dbSNP Id:
rs153477
ExAC:
5:150639409 A / G
gnomAD v2:
5-150639409-A-G
gnomAD v3:
5-151259848-A-G
gnomAD v4:
5-151259848-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151259848A>G , CM000667.2:g.151259848A>G | GRCh38 |
| NC_000005.9:g.150639409A>G , CM000667.1:g.150639409A>G | GRCh37 |
| NC_000005.8:g.150619602A>G | NCBI36 |
| NG_009059.1:g.11797A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000357164.4:c.175A>G MANE Select | ENSP00000349687.3:p.Ile59Val | |
| ENST00000357164.3:c.175A>G | ENSP00000349687.3:p.Ile59Val | |
| ENST00000523004.1:c.50A>G | ||
| ENST00000523466.5:c.220A>G | ENSP00000429100.1:p.Ile74Val | |
| NM_000405.4:c.175A>G | NP_000396.2:p.Ile59Val | |
| NM_001167607.1:c.175A>G | NP_001161079.1:p.Ile59Val | |
| NM_000405.5:c.175A>G MANE Select | NP_000396.2:p.Ile59Val | |
| NM_001167607.2:c.175A>G | NP_001161079.1:p.Ile59Val | |
| NM_001167607.3:c.175A>G | NP_001161079.1:p.Ile59Val |