Linked Data
ClinVar Variation Id:
280718
dbSNP Id:
rs777181377
ExAC:
1:152285144 G / A
gnomAD v2:
1-152285144-G-A
gnomAD v3:
1-152312668-G-A
gnomAD v4:
1-152312668-G-A
COSMIC:
COSM6328680
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.152312668G>A , CM000663.2:g.152312668G>A | GRCh38 |
| NC_000001.10:g.152285144G>A , CM000663.1:g.152285144G>A | GRCh37 |
| NC_000001.9:g.150551768G>A | NCBI36 |
| NG_016190.1:g.17536C>T , LRG_1028:g.17536C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000368799.2:c.2218C>T MANE Select | ENSP00000357789.1:p.Arg740Ter | |
| ENST00000368799.1:c.2218C>T | ENSP00000357789.1:p.Arg740Ter | |
| NM_002016.1:c.2218C>T , LRG_1028t1:c.2218C>T | NP_002007.1:p.Arg740Ter | |
| XM_011509329.1:c.2218C>T | XP_011507631.1:p.Arg740Ter | |
| NM_002016.2:c.2218C>T MANE Select | NP_002007.1:p.Arg740Ter |