Linked Data
ClinVar Variation Id:
1419326
ClinVar RCV Id:
RCV001940632
dbSNP Id:
rs760025343
ExAC:
5:158747389 T / C
gnomAD v2:
5-158747389-T-C
gnomAD v3:
5-159320381-T-C
gnomAD v4:
5-159320381-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.159320381T>C , CM000667.2:g.159320381T>C | GRCh38 |
| NC_000005.9:g.158747389T>C , CM000667.1:g.158747389T>C | GRCh37 |
| NC_000005.8:g.158679967T>C | NCBI36 |
| NG_009618.1:g.15093A>G , LRG_71:g.15093A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696750.1:c.-9A>G | ENSP00000512849.1:n.-9A>G | |
| ENST00000696751.1:c.*117A>G | ENSP00000512850.1:n.*117A>G | |
| ENST00000231228.3:c.622A>G MANE Select | ENSP00000231228.2:p.Ile208Val | |
| ENST00000231228.2:c.622A>G | ENSP00000231228.2:p.Ile208Val | |
| NM_002187.2:c.622A>G , LRG_71t1:c.622A>G | NP_002178.2:p.Ile208Val | |
| NM_002187.3:c.622A>G MANE Select | NP_002178.2:p.Ile208Val |