Linked Data
ClinVar Variation Id:
2230756
ClinVar RCV Id:
RCV002717769
dbSNP Id:
rs561302791
ExAC:
1:152281700 C / G
gnomAD v2:
1-152281700-C-G
gnomAD v3:
1-152309224-C-G
gnomAD v4:
1-152309224-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.152309224C>G , CM000663.2:g.152309224C>G | GRCh38 |
| NC_000001.10:g.152281700C>G , CM000663.1:g.152281700C>G | GRCh37 |
| NC_000001.9:g.150548324C>G | NCBI36 |
| NG_016190.1:g.20980G>C , LRG_1028:g.20980G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368799.2:c.5662G>C MANE Select | ENSP00000357789.1:p.Ala1888Pro | |
| ENST00000368799.1:c.5662G>C | ENSP00000357789.1:p.Ala1888Pro | |
| NM_002016.1:c.5662G>C , LRG_1028t1:c.5662G>C | NP_002007.1:p.Ala1888Pro | |
| XM_011509329.1:c.5662G>C | XP_011507631.1:p.Ala1888Pro | |
| NM_002016.2:c.5662G>C MANE Select | NP_002007.1:p.Ala1888Pro |