Linked Data
ClinVar Variation Id:
425965
dbSNP Id:
rs765887545
gnomAD v2:
2-203420138-C-T
gnomAD v3:
2-202555415-C-T
gnomAD v4:
2-202555415-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202555415C>T , CM000664.2:g.202555415C>T | GRCh38 |
| NC_000002.11:g.203420138C>T , CM000664.1:g.203420138C>T | GRCh37 |
| NC_000002.10:g.203128383C>T | NCBI36 |
| NG_009363.1:g.184089C>T , LRG_712:g.184089C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374580.10:c.1750C>T MANE Select | ENSP00000363708.4:p.Arg584Ter | |
| ENST00000638587.1:c.1681C>T | ENSP00000491062.1:n.1681C>T | |
| ENST00000374574.2:c.1586+2527C>T | ENSP00000363702.2:n.1586+2527C>T | |
| ENST00000374580.8:c.1750C>T | ENSP00000363708.4:p.Arg584Ter | |
| NM_001204.6:c.1750C>T , LRG_712t1:c.1750C>T | NP_001195.2:p.Arg584Ter | |
| XM_011511687.1:c.1750C>T | XP_011509989.1:p.Arg584Ter | |
| XM_011511688.1:c.1586+2527C>T | XP_011509990.1:n.1586+2527C>T | |
| NM_001204.7:c.1750C>T MANE Select | NP_001195.2:p.Arg584Ter |