Linked Data
ClinVar Variation Id:
2194
dbSNP Id:
rs267607018
gnomAD v4:
8-10611220-A-G
PubMed:
PMID:20826268
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.10611220A>G , CM000670.2:g.10611220A>G | GRCh38 |
| NC_000008.10:g.10468730A>G , CM000670.1:g.10468730A>G | GRCh37 |
| NC_000008.9:g.10506140A>G | NCBI36 |
| NG_028035.1:g.48888T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382483.4:c.2878T>C MANE Select | ENSP00000371923.3:p.Trp960Arg | |
| ENST00000382483.3:c.2878T>C | ENSP00000371923.3:p.Trp960Arg | |
| NM_178857.5:c.2878T>C | NP_849188.4:p.Trp960Arg | |
| NM_178857.6:c.2878T>C MANE Select | NP_849188.4:p.Trp960Arg |