Linked Data
ClinVar Variation Id:
1915761
ClinVar RCV Id:
RCV002594064
dbSNP Id:
rs766495914
ExAC:
3:172165879 A / G
gnomAD v2:
3-172165879-A-G
gnomAD v3:
3-172448089-A-G
gnomAD v4:
3-172448089-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.172448089A>G , CM000665.2:g.172448089A>G | GRCh38 |
| NC_000003.11:g.172165879A>G , CM000665.1:g.172165879A>G | GRCh37 |
| NC_000003.10:g.173648573A>G | NCBI36 |
| NG_021159.1:g.5368T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000241256.3:c.325T>C MANE Select | ENSP00000241256.2:p.Trp109Arg | |
| ENST00000241256.2:c.325T>C | ENSP00000241256.2:p.Trp109Arg | |
| ENST00000427970.1:c.325T>C | ENSP00000395344.1:p.Trp109Arg | |
| NM_004122.2:c.325T>C | NP_004113.1:p.Trp109Arg | |
| NM_198407.2:c.325T>C MANE Select | NP_940799.1:p.Trp109Arg |