Linked Data
ClinVar Variation Id:
7529
dbSNP Id:
rs104893884
gnomAD v4:
5-44305045-G-A
PubMed:
PMID:15654336
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.44305045G>A , CM000667.2:g.44305045G>A | GRCh38 |
| NC_000005.9:g.44305147G>A , CM000667.1:g.44305147G>A | GRCh37 |
| NC_000005.8:g.44340904G>A | NCBI36 |
| NG_011446.1:g.88638C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264664.5:c.577C>T MANE Select | ENSP00000264664.4:p.Arg193Ter | |
| ENST00000264664.4:c.577C>T | ENSP00000264664.4:p.Arg193Ter | |
| NM_004465.1:c.577C>T | NP_004456.1:p.Arg193Ter | |
| XM_005248264.2:c.577C>T | XP_005248321.1:p.Arg193Ter | |
| XM_005248264.4:c.577C>T | XP_005248321.1:p.Arg193Ter | |
| NM_004465.2:c.577C>T MANE Select | NP_004456.1:p.Arg193Ter |