Linked Data
ClinVar Variation Id:
7532
ClinVar RCV Id:
RCV003151711
dbSNP Id:
rs104893886
PubMed:
PMID:16630169
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.44305155A>C , CM000667.2:g.44305155A>C | GRCh38 |
| NC_000005.9:g.44305257A>C , CM000667.1:g.44305257A>C | GRCh37 |
| NC_000005.8:g.44341014A>C | NCBI36 |
| NG_011446.1:g.88528T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264664.5:c.467T>G MANE Select | ENSP00000264664.4:p.Ile156Arg | |
| ENST00000264664.4:c.467T>G | ENSP00000264664.4:p.Ile156Arg | |
| NM_004465.1:c.467T>G | NP_004456.1:p.Ile156Arg | |
| XM_005248264.2:c.467T>G | XP_005248321.1:p.Ile156Arg | |
| XM_005248264.4:c.467T>G | XP_005248321.1:p.Ile156Arg | |
| NM_004465.2:c.467T>G MANE Select | NP_004456.1:p.Ile156Arg |