Linked Data
ClinVar Variation Id:
1944
dbSNP Id:
rs121434357
gnomAD v2:
19-8665913-G-A
gnomAD v4:
19-8601029-G-A
PubMed:
PMID:15368195
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.8601029G>A , CM000681.2:g.8601029G>A | GRCh38 |
| NC_000019.9:g.8665913G>A , CM000681.1:g.8665913G>A | GRCh37 |
| NC_000019.8:g.8571913G>A | NCBI36 |
| NG_011840.2:g.14674C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000597188.6:c.709C>T MANE Select | ENSP00000471851.1:p.Arg237Ter | |
| ENST00000270328.8:c.709C>T | ENSP00000270328.4:p.Arg237Ter | |
| ENST00000593913.5:c.709C>T | ENSP00000469901.1:p.Arg237Ter | |
| ENST00000596466.2:n.658C>T | ||
| ENST00000596709.5:n.793C>T | ||
| ENST00000596851.5:c.709C>T | ENSP00000469559.1:p.Arg237Ter | |
| ENST00000597188.5:c.709C>T | ENSP00000471851.1:p.Arg237Ter | |
| NM_030957.3:c.709C>T | NP_112219.3:p.Arg237Ter | |
| XM_006722917.2:c.-401C>T | XP_006722980.1:n.-401C>T | |
| XM_011528331.1:c.709C>T | XP_011526633.1:p.Arg237Ter | |
| XM_011528332.1:c.709C>T | XP_011526634.1:p.Arg237Ter | |
| XM_011528333.1:c.709C>T | XP_011526635.1:p.Arg237Ter | |
| XM_011528334.1:c.709C>T | XP_011526636.1:p.Arg237Ter | |
| XR_430156.2:n.985C>T | ||
| XR_936208.1:n.985C>T | ||
| XR_936209.1:n.985C>T | ||
| XM_006722917.3:c.-401C>T | XP_006722980.1:n.-401C>T | |
| XM_017027338.2:c.709C>T | XP_016882827.1:p.Arg237Ter | |
| XR_001753770.1:n.1545C>T | ||
| NM_030957.4:c.709C>T MANE Select | NP_112219.3:p.Arg237Ter |