Linked Data
ClinVar Variation Id:
17802
ClinVar RCV Id:
RCV000019380
dbSNP Id:
rs121918113
gnomAD v3:
16-28887236-C-T
gnomAD v4:
16-28887236-C-T
PubMed:
PMID:8841193
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28887236C>T , CM000678.2:g.28887236C>T | GRCh38 |
| NC_000016.9:g.28898557C>T , CM000678.1:g.28898557C>T | GRCh37 |
| NC_000016.8:g.28806058C>T | NCBI36 |
| NG_023327.1:g.13749C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000395503.9:c.592C>T MANE Select | ENSP00000378879.5:p.Arg198Ter | |
| ENST00000357084.7:c.592C>T | ENSP00000349595.3:p.Arg198Ter | |
| ENST00000395503.8:c.592C>T | ENSP00000378879.4:p.Arg198Ter | |
| ENST00000536376.5:c.217C>T | ENSP00000443101.1:p.Arg73Ter | |
| NM_001286075.1:c.217C>T | NP_001273004.1:p.Arg73Ter | |
| NM_004320.4:c.592C>T | NP_004311.1:p.Arg198Ter | |
| NM_173201.3:c.592C>T | NP_775293.1:p.Arg198Ter | |
| NM_004320.6:c.592C>T MANE Select | NP_004311.1:p.Arg198Ter | |
| NM_173201.4:c.592C>T | NP_775293.1:p.Arg198Ter | |
| NM_001286075.2:c.217C>T | NP_001273004.1:p.Arg73Ter | |
| NM_173201.5:c.592C>T | NP_775293.1:p.Arg198Ter |