Linked Data
dbSNP Id:
rs752478390
ExAC:
1:160851959 T / C
gnomAD v2:
1-160851959-T-C
gnomAD v3:
1-160882169-T-C
gnomAD v4:
1-160882169-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160882169T>C , CM000663.2:g.160882169T>C | GRCh38 |
| NC_000001.10:g.160851959T>C , CM000663.1:g.160851959T>C | GRCh37 |
| NC_000001.9:g.159118583T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000326245.4:c.193A>G MANE Select | ENSP00000323587.3:p.Ile65Val | |
| ENST00000326245.3:c.193A>G | ENSP00000323587.3:p.Ile65Val | |
| ENST00000464077.1:n.127A>G | ||
| NM_017625.2:c.193A>G | NP_060095.2:p.Ile65Val | |
| NM_017625.3:c.193A>G MANE Select | NP_060095.2:p.Ile65Val |