Linked Data
ClinVar Variation Id:
2359172
ClinVar RCV Id:
RCV002980169
dbSNP Id:
rs753688433
ExAC:
1:152277241 T / C
gnomAD v2:
1-152277241-T-C
gnomAD v3:
1-152304765-T-C
gnomAD v4:
1-152304765-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.152304765T>C , CM000663.2:g.152304765T>C | GRCh38 |
| NC_000001.10:g.152277241T>C , CM000663.1:g.152277241T>C | GRCh37 |
| NC_000001.9:g.150543865T>C | NCBI36 |
| NG_016190.1:g.25439A>G , LRG_1028:g.25439A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368799.2:c.10121A>G MANE Select | ENSP00000357789.1:p.Asp3374Gly | |
| ENST00000368799.1:c.10121A>G | ENSP00000357789.1:p.Asp3374Gly | |
| NM_002016.1:c.10121A>G , LRG_1028t1:c.10121A>G | NP_002007.1:p.Asp3374Gly | |
| XM_011509329.1:c.9109-932A>G | XP_011507631.1:n.9109-932A>G | |
| NM_002016.2:c.10121A>G MANE Select | NP_002007.1:p.Asp3374Gly |