Linked Data
ClinVar Variation Id:
35974
ClinVar RCV Id:
RCV000029630
dbSNP Id:
rs193922449
PubMed:
PMID:8634410
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.37796074G>T , CM000685.2:g.37796074G>T | GRCh38 |
| NC_000023.10:g.37655327G>T , CM000685.1:g.37655327G>T | GRCh37 |
| NC_000023.9:g.37540267G>T | NCBI36 |
| NG_009065.1:g.21054G>T , LRG_53:g.21054G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696170.1:c.*116G>T | ENSP00000512461.1:n.*116G>T | |
| ENST00000696171.1:c.511G>T | ENSP00000512462.1:p.Glu171Ter | |
| ENST00000696172.1:c.338-2881G>T | ENSP00000512463.1:n.338-2881G>T | |
| ENST00000378588.5:c.607G>T MANE Select | ENSP00000367851.4:p.Glu203Ter | |
| ENST00000378588.4:c.607G>T | ENSP00000367851.4:p.Glu203Ter | |
| ENST00000465127.1:c.171+370074G>T | ENSP00000417050.1:n.171+370074G>T | |
| NM_000397.3:c.607G>T , LRG_53t1:c.607G>T | NP_000388.2:p.Glu203Ter | |
| XM_011543890.1:c.301G>T | XP_011542192.1:p.Glu101Ter | |
| NM_000397.4:c.607G>T MANE Select | NP_000388.2:p.Glu203Ter |