Linked Data
ClinVar Variation Id:
13579
ClinVar RCV Id:
RCV000014547
dbSNP Id:
rs121918032
PubMed:
PMID:9834305
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.160731229G>T , CM000668.2:g.160731229G>T | GRCh38 |
| NC_000006.11:g.161152261G>T , CM000668.1:g.161152261G>T | GRCh37 |
| NC_000006.10:g.161072251G>T | NCBI36 |
| NG_016200.1:g.34037G>T , LRG_571:g.34037G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297289.9:c.388G>T | ENSP00000516619.1:p.Glu130Ter | |
| ENST00000418964.2:c.1486G>T | ENSP00000389424.2:p.Glu496Ter | |
| ENST00000706906.1:c.1435G>T | ENSP00000516618.1:p.Glu479Ter | |
| ENST00000308192.14:c.1435G>T MANE Select | ENSP00000308938.9:p.Glu479Ter | |
| ENST00000297289.8:n.433G>T | ||
| ENST00000308192.13:c.1435G>T | ENSP00000308938.9:p.Glu479Ter | |
| ENST00000493435.1:n.490G>T | ||
| NM_000301.3:c.1435G>T , LRG_571t1:c.1435G>T | NP_000292.1:p.Glu479Ter | |
| NM_000301.4:c.1435G>T | NP_000292.1:p.Glu479Ter | |
| NM_000301.5:c.1435G>T MANE Select | NP_000292.1:p.Glu479Ter |