Linked Data
ClinVar Variation Id:
2296
ClinVar RCV Id:
RCV000002386
dbSNP Id:
rs121434381
PubMed:
PMID:18625865
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.132331123C>A , CM000671.2:g.132331123C>A | GRCh38 |
| NC_000009.11:g.135206510C>A , CM000671.1:g.135206510C>A | GRCh37 |
| NC_000009.10:g.134196331C>A | NCBI36 |
| NG_007946.1:g.28863G>T , LRG_268:g.28863G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000224140.6:c.1027G>T MANE Select | ENSP00000224140.5:p.Glu343Ter | |
| ENST00000224140.5:c.1027G>T | ENSP00000224140.5:p.Glu343Ter | |
| NM_015046.5:c.1027G>T , LRG_268t1:c.1027G>T | NP_055861.3:p.Glu343Ter | |
| XM_005272171.1:c.1027G>T | XP_005272228.1:p.Glu343Ter | |
| XM_005272172.1:c.1027G>T | XP_005272229.1:p.Glu343Ter | |
| XM_005272173.1:c.1027G>T | XP_005272230.1:p.Glu343Ter | |
| XM_011518404.1:c.1027G>T | XP_011516706.1:p.Glu343Ter | |
| XM_011518405.1:c.1027G>T | XP_011516707.1:p.Glu343Ter | |
| XM_011518406.1:c.1027G>T | XP_011516708.1:p.Glu343Ter | |
| XM_011518407.1:c.1027G>T | XP_011516709.1:p.Glu343Ter | |
| XM_011518408.1:c.1027G>T | XP_011516710.1:p.Glu343Ter | |
| XR_929739.1:n.1211G>T | ||
| NM_001351527.1:c.1027G>T | NP_001338456.1:p.Glu343Ter | |
| NM_001351528.1:c.1027G>T | NP_001338457.1:p.Glu343Ter | |
| NM_015046.6:c.1027G>T | NP_055861.3:p.Glu343Ter | |
| XM_005272172.3:c.1027G>T | XP_005272229.1:p.Glu343Ter | |
| XM_005272173.3:c.1027G>T | XP_005272230.1:p.Glu343Ter | |
| XM_011518404.3:c.1027G>T | XP_011516706.1:p.Glu343Ter | |
| XM_011518405.3:c.1027G>T | XP_011516707.1:p.Glu343Ter | |
| XM_011518406.2:c.1027G>T | XP_011516708.1:p.Glu343Ter | |
| XM_011518408.3:c.1027G>T | XP_011516710.1:p.Glu343Ter | |
| XR_001746251.1:n.1211G>T | ||
| XR_929739.2:n.1211G>T | ||
| NM_015046.7:c.1027G>T MANE Select | NP_055861.3:p.Glu343Ter | |
| NM_001351528.2:c.1027G>T | NP_001338457.1:p.Glu343Ter | |
| NM_001351527.2:c.1027G>T | NP_001338456.1:p.Glu343Ter |