Linked Data
ClinVar Variation Id:
225060
dbSNP Id:
rs147145234
ExAC:
1:152281123 G / T
gnomAD v2:
1-152281123-G-T
gnomAD v3:
1-152308647-G-T
gnomAD v4:
1-152308647-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.152308647G>T , CM000663.2:g.152308647G>T | GRCh38 |
| NC_000001.10:g.152281123G>T , CM000663.1:g.152281123G>T | GRCh37 |
| NC_000001.9:g.150547747G>T | NCBI36 |
| NG_016190.1:g.21557C>A , LRG_1028:g.21557C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000368799.2:c.6239C>A MANE Select | ENSP00000357789.1:p.Ser2080Ter | |
| ENST00000368799.1:c.6239C>A | ENSP00000357789.1:p.Ser2080Ter | |
| NM_002016.1:c.6239C>A , LRG_1028t1:c.6239C>A | NP_002007.1:p.Ser2080Ter | |
| XM_011509329.1:c.6239C>A | XP_011507631.1:p.Ser2080Ter | |
| NM_002016.2:c.6239C>A MANE Select | NP_002007.1:p.Ser2080Ter |