Linked Data
ClinVar Variation Id:
394
ClinVar RCV Id:
RCV000000425
dbSNP Id:
rs104893897
PubMed:
PMID:10364519
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151259833G>T , CM000667.2:g.151259833G>T | GRCh38 |
| NC_000005.9:g.150639394G>T , CM000667.1:g.150639394G>T | GRCh37 |
| NC_000005.8:g.150619587G>T | NCBI36 |
| NG_009059.1:g.11782G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000357164.4:c.160G>T MANE Select | ENSP00000349687.3:p.Glu54Ter | |
| ENST00000357164.3:c.160G>T | ENSP00000349687.3:p.Glu54Ter | |
| ENST00000523004.1:c.35G>T | ||
| ENST00000523466.5:c.205G>T | ENSP00000429100.1:p.Glu69Ter | |
| NM_000405.4:c.160G>T | NP_000396.2:p.Glu54Ter | |
| NM_001167607.1:c.160G>T | NP_001161079.1:p.Glu54Ter | |
| NM_000405.5:c.160G>T MANE Select | NP_000396.2:p.Glu54Ter | |
| NM_001167607.2:c.160G>T | NP_001161079.1:p.Glu54Ter | |
| NM_001167607.3:c.160G>T | NP_001161079.1:p.Glu54Ter |