Linked Data
ClinVar Variation Id:
1479558
ClinVar RCV Id:
RCV002009836
dbSNP Id:
rs1261568530
gnomAD v2:
6-31918467-G-T
gnomAD v3:
6-31950690-G-T
gnomAD v4:
6-31950690-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31950690G>T , CM000668.2:g.31950690G>T | GRCh38 |
| NC_000006.11:g.31918467G>T , CM000668.1:g.31918467G>T | GRCh37 |
| NC_000006.10:g.32026446G>T | NCBI36 |
| NG_008191.1:g.9747G>T , LRG_136:g.9747G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000452035.7:n.2088G>T | ||
| ENST00000483004.2:c.1480G>T | ENSP00000419887.2:p.Glu494Ter | |
| ENST00000698628.1:c.1624+287G>T | ENSP00000513848.1:n.1624+287G>T | |
| ENST00000698629.1:n.1873G>T | ||
| ENST00000698630.1:n.2412G>T | ||
| ENST00000698631.1:n.2413G>T | ||
| ENST00000698632.1:n.3207G>T | ||
| ENST00000698633.1:n.3097G>T | ||
| ENST00000698636.1:n.1918G>T | ||
| ENST00000425368.7:c.1696G>T MANE Select | ENSP00000416561.2:p.Glu566Ter | |
| ENST00000425368.6:c.1696G>T | ENSP00000416561.2:p.Glu566Ter | |
| ENST00000456570.5:c.3202G>T | ENSP00000410815.1:p.Glu1068Ter | |
| ENST00000467360.1:n.822G>T | ||
| ENST00000477310.1:c.2749G>T | ENSP00000418996.1:p.Glu917Ter | |
| ENST00000483004.1:c.318G>T | ||
| NM_001710.5:c.1696G>T , LRG_136t1:c.1696G>T | NP_001701.2:p.Glu566Ter | |
| NM_001710.6:c.1696G>T MANE Select | NP_001701.2:p.Glu566Ter |