Linked Data
ClinVar Variation Id:
1408
dbSNP Id:
rs137853123
ExAC:
22:37466597 G / A
gnomAD v2:
22-37466597-G-A
gnomAD v3:
22-37070557-G-A
gnomAD v4:
22-37070557-G-A
PubMed:
PMID:18596229
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.37070557G>A , CM000684.2:g.37070557G>A | GRCh38 |
| NC_000022.10:g.37466597G>A , CM000684.1:g.37466597G>A | GRCh37 |
| NC_000022.9:g.35796543G>A | NCBI36 |
| NG_012856.2:g.44007C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346753.9:c.1768C>T | ENSP00000334962.6:p.Arg590Ter | |
| ENST00000406725.6:c.1768C>T | ENSP00000385453.1:p.Arg590Ter | |
| ENST00000406856.7:c.1768C>T | ENSP00000384964.1:p.Arg590Ter | |
| ENST00000676104.1:c.1768C>T MANE Select | ENSP00000501573.1:p.Arg590Ter | |
| ENST00000346753.7:c.1795C>T | ENSP00000334962.5:p.Arg599Ter | |
| ENST00000381792.6:c.1768C>T | ENSP00000371211.2:p.Arg590Ter | |
| ENST00000406725.5:c.1768C>T | ENSP00000385453.1:p.Arg590Ter | |
| ENST00000406856.5:c.1768C>T | ENSP00000384964.1:p.Arg590Ter | |
| NM_001289000.1:c.1768C>T | NP_001275929.1:p.Arg590Ter | |
| NM_001289001.1:c.1768C>T | NP_001275930.1:p.Arg590Ter | |
| NM_153609.3:c.1795C>T | NP_705837.1:p.Arg599Ter | |
| XM_006724162.1:c.1768C>T | XP_006724225.1:p.Arg590Ter | |
| XM_006724163.2:c.1768C>T | XP_006724226.1:p.Arg590Ter | |
| XM_011529987.1:c.1768C>T | XP_011528289.1:p.Arg590Ter | |
| XM_011529988.1:c.1768C>T | XP_011528290.1:p.Arg590Ter | |
| XM_011529989.1:c.1336C>T | XP_011528291.1:p.Arg446Ter | |
| XM_011529989.2:c.1336C>T | XP_011528291.1:p.Arg446Ter | |
| XM_024452167.1:c.1768C>T | XP_024307935.1:p.Arg590Ter | |
| XM_024452168.1:c.1768C>T | XP_024307936.1:p.Arg590Ter | |
| XM_024452169.1:c.1768C>T | XP_024307937.1:p.Arg590Ter | |
| XM_024452170.1:c.1768C>T | XP_024307938.1:p.Arg590Ter | |
| XM_024452171.1:c.1768C>T | XP_024307939.1:p.Arg590Ter | |
| NM_001289000.2:c.1768C>T | NP_001275929.1:p.Arg590Ter | |
| NM_001289001.2:c.1768C>T | NP_001275930.1:p.Arg590Ter | |
| NM_001374504.1:c.1768C>T MANE Select | NP_001361433.1:p.Arg590Ter | |
| NM_153609.4:c.1768C>T | NP_705837.2:p.Arg590Ter |