Linked Data
ClinVar Variation Id:
3095509
ClinVar RCV Id:
RCV004386827
dbSNP Id:
rs758157072
gnomAD v2:
1-152281526-C-A
gnomAD v3:
1-152309050-C-A
gnomAD v4:
1-152309050-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.152309050C>A , CM000663.2:g.152309050C>A | GRCh38 |
| NC_000001.10:g.152281526C>A , CM000663.1:g.152281526C>A | GRCh37 |
| NC_000001.9:g.150548150C>A | NCBI36 |
| NG_016190.1:g.21154G>T , LRG_1028:g.21154G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368799.2:c.5836G>T MANE Select | ENSP00000357789.1:p.Ala1946Ser | |
| ENST00000368799.1:c.5836G>T | ENSP00000357789.1:p.Ala1946Ser | |
| NM_002016.1:c.5836G>T , LRG_1028t1:c.5836G>T | NP_002007.1:p.Ala1946Ser | |
| XM_011509329.1:c.5836G>T | XP_011507631.1:p.Ala1946Ser | |
| NM_002016.2:c.5836G>T MANE Select | NP_002007.1:p.Ala1946Ser |