Linked Data
ClinVar Variation Id:
14022
ClinVar RCV Id:
RCV001801239
dbSNP Id:
rs104893625
PubMed:
PMID:12692554
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.136114901C>A , CM000664.2:g.136114901C>A | GRCh38 |
| NC_000002.11:g.136872471C>A , CM000664.1:g.136872471C>A | GRCh37 |
| NC_000002.10:g.136588941C>A | NCBI36 |
| NG_011587.1:g.8255G>T , LRG_51:g.8255G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696136.1:c.1015G>T | ENSP00000512428.1:p.Glu339Ter | |
| ENST00000696137.1:c.982G>T | ENSP00000512429.1:p.Glu328Ter | |
| ENST00000696152.1:c.982G>T | ENSP00000512443.1:p.Glu328Ter | |
| ENST00000696228.1:c.1015G>T | ENSP00000512494.1:p.Glu339Ter | |
| ENST00000241393.4:c.1027G>T MANE Select | ENSP00000241393.3:p.Glu343Ter | |
| ENST00000241393.3:c.1027G>T | ENSP00000241393.3:p.Glu343Ter | |
| ENST00000409817.1:c.1039G>T | ENSP00000386884.1:p.Glu347Ter | |
| ENST00000466288.1:n.1221G>T | ||
| NM_001008540.1:c.1039G>T | NP_001008540.1:p.Glu347Ter | |
| NM_003467.2:c.1027G>T , LRG_51t1:c.1027G>T | NP_003458.1:p.Glu343Ter | |
| NM_001008540.2:c.1039G>T | NP_001008540.1:p.Glu347Ter | |
| NM_001348056.1:c.1240G>T | NP_001334985.1:p.Glu414Ter | |
| NM_001348059.1:c.1126G>T | NP_001334988.1:p.Glu376Ter | |
| NM_001348060.1:c.982G>T | NP_001334989.1:p.Glu328Ter | |
| NM_001348056.2:c.1240G>T | NP_001334985.1:p.Glu414Ter | |
| NM_001348059.2:c.1126G>T | NP_001334988.1:p.Glu376Ter | |
| NM_001348060.2:c.982G>T | NP_001334989.1:p.Glu328Ter | |
| NM_003467.3:c.1027G>T MANE Select | NP_003458.1:p.Glu343Ter |