Linked Data
ClinVar Variation Id:
446225
ClinVar RCV Id:
RCV000515504
dbSNP Id:
rs1554580083
PubMed:
PMID:29069077
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.152250898T>A , CM000669.2:g.152250898T>A | GRCh38 |
| NC_000007.13:g.151947983T>A , CM000669.1:g.151947983T>A | GRCh37 |
| NC_000007.12:g.151578916T>A | NCBI36 |
| NG_033948.1:g.190108A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682280.1:n.1711A>T | ||
| ENST00000682283.1:c.1690A>T | ENSP00000507485.1:p.Lys564Ter | |
| ENST00000682916.1:c.808A>T | ENSP00000506784.1:p.Lys270Ter | |
| ENST00000683038.1:n.1015A>T | ||
| ENST00000683490.1:c.1690A>T | ENSP00000507385.1:p.Lys564Ter | |
| ENST00000683616.1:c.1693A>T | ENSP00000507332.1:p.Lys565Ter | |
| ENST00000684550.1:c.1690A>T | ENSP00000507135.1:p.Lys564Ter | |
| ENST00000262189.11:c.1690A>T MANE Select | ENSP00000262189.6:p.Lys564Ter | |
| ENST00000679645.1:c.1690A>T | ENSP00000505745.1:p.Lys564Ter | |
| ENST00000679882.1:c.1690A>T | ENSP00000506154.1:p.Lys564Ter | |
| ENST00000680039.1:c.*2413A>T | ENSP00000506132.1:n.*2413A>T | |
| ENST00000681033.1:c.391A>T | ENSP00000505058.1:p.Lys131Ter | |
| ENST00000262189.10:c.1690A>T | ENSP00000262189.6:p.Lys564Ter | |
| ENST00000355193.6:c.1690A>T | ENSP00000347325.3:p.Lys564Ter | |
| ENST00000558084.5:c.1690A>T | ENSP00000453752.1:p.Lys564Ter | |
| NM_170606.2:c.1690A>T | NP_733751.2:p.Lys564Ter | |
| XM_005250025.3:c.1693A>T | XP_005250082.1:p.Lys565Ter | |
| XM_005250026.2:c.1690A>T | XP_005250083.1:p.Lys564Ter | |
| XM_005250027.3:c.1693A>T | XP_005250084.1:p.Lys565Ter | |
| XM_005250028.3:c.1693A>T | XP_005250085.1:p.Lys565Ter | |
| XM_005250031.3:c.1693A>T | XP_005250088.1:p.Lys565Ter | |
| XM_006716077.2:c.1693A>T | XP_006716140.1:p.Lys565Ter | |
| XM_006716078.2:c.1693A>T | XP_006716141.1:p.Lys565Ter | |
| XM_006716079.2:c.1693A>T | XP_006716142.1:p.Lys565Ter | |
| XM_011516450.1:c.1693A>T | XP_011514752.1:p.Lys565Ter | |
| XM_011516451.1:c.1693A>T | XP_011514753.1:p.Lys565Ter | |
| XM_011516452.1:c.1693A>T | XP_011514754.1:p.Lys565Ter | |
| XM_011516453.1:c.1693A>T | XP_011514755.1:p.Lys565Ter | |
| XM_011516454.1:c.778A>T | XP_011514756.1:p.Lys260Ter | |
| XM_011516456.1:c.1693A>T | XP_011514758.1:p.Lys565Ter | |
| XR_428183.2:n.1901A>T | ||
| XM_005250025.4:c.1693A>T | XP_005250082.1:p.Lys565Ter | |
| XM_005250026.3:c.1690A>T | XP_005250083.1:p.Lys564Ter | |
| XM_005250027.4:c.1693A>T | XP_005250084.1:p.Lys565Ter | |
| XM_005250028.4:c.1693A>T | XP_005250085.1:p.Lys565Ter | |
| XM_005250031.4:c.1693A>T | XP_005250088.1:p.Lys565Ter | |
| XM_006716077.3:c.1693A>T | XP_006716140.1:p.Lys565Ter | |
| XM_006716078.3:c.1693A>T | XP_006716141.1:p.Lys565Ter | |
| XM_006716079.3:c.1693A>T | XP_006716142.1:p.Lys565Ter | |
| XM_011516450.2:c.1693A>T | XP_011514752.1:p.Lys565Ter | |
| XM_011516451.2:c.1693A>T | XP_011514753.1:p.Lys565Ter | |
| XM_011516452.2:c.1693A>T | XP_011514754.1:p.Lys565Ter | |
| XM_011516453.2:c.1693A>T | XP_011514755.1:p.Lys565Ter | |
| XM_011516454.2:c.778A>T | XP_011514756.1:p.Lys260Ter | |
| XM_011516456.2:c.1693A>T | XP_011514758.1:p.Lys565Ter | |
| XM_017012480.1:c.1693A>T | XP_016867969.1:p.Lys565Ter | |
| XM_017012481.1:c.1690A>T | XP_016867970.1:p.Lys564Ter | |
| XM_017012482.1:c.1693A>T | XP_016867971.1:p.Lys565Ter | |
| XM_017012483.1:c.1693A>T | XP_016867972.1:p.Lys565Ter | |
| XM_017012484.1:c.1660A>T | XP_016867973.1:p.Lys554Ter | |
| XM_017012485.1:c.1690A>T | XP_016867974.1:p.Lys564Ter | |
| XM_017012486.1:c.1693A>T | XP_016867975.1:p.Lys565Ter | |
| XM_017012487.1:c.1546A>T | XP_016867976.1:p.Lys516Ter | |
| XM_017012488.1:c.1693A>T | XP_016867977.1:p.Lys565Ter | |
| XM_024446852.1:c.1693A>T | XP_024302620.1:p.Lys565Ter | |
| XM_024446853.1:c.1693A>T | XP_024302621.1:p.Lys565Ter | |
| XR_428183.3:n.1925A>T | ||
| NM_170606.3:c.1690A>T MANE Select | NP_733751.2:p.Lys564Ter |