Linked Data
ClinVar Variation Id:
18023
dbSNP Id:
rs121909548
ExAC:
1:173873176 C / A
gnomAD v2:
1-173873176-C-A
gnomAD v3:
1-173904038-C-A
gnomAD v4:
1-173904038-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173904038C>A , CM000663.2:g.173904038C>A | GRCh38 |
| NC_000001.10:g.173873176C>A , CM000663.1:g.173873176C>A | GRCh37 |
| NC_000001.9:g.172139799C>A | NCBI36 |
| NG_012462.1:g.18341G>T , LRG_577:g.18341G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367698.4:c.1246G>T MANE Select | ENSP00000356671.3:p.Ala416Ser | |
| ENST00000367698.3:c.1246G>T | ENSP00000356671.3:p.Ala416Ser | |
| ENST00000617423.4:c.631G>T | ENSP00000478688.1:p.Ala211Ser | |
| NM_000488.3:c.1246G>T , LRG_577t1:c.1246G>T | NP_000479.1:p.Ala416Ser | |
| XM_005245198.2:c.1102G>T | XP_005245255.1:p.Ala368Ser | |
| NM_001365052.1:c.1102G>T | NP_001351981.1:p.Ala368Ser | |
| NM_000488.4:c.1246G>T MANE Select | NP_000479.1:p.Ala416Ser | |
| NM_001365052.2:c.1102G>T | NP_001351981.1:p.Ala368Ser | |
| NM_001386302.1:c.1369G>T | NP_001373231.1:p.Ala457Ser | |
| NM_001386303.1:c.1327G>T | NP_001373232.1:p.Ala443Ser | |
| NM_001386304.1:c.1225G>T | NP_001373233.1:p.Ala409Ser | |
| NM_001386305.1:c.1189G>T | NP_001373234.1:p.Ala397Ser | |
| NM_001386306.1:c.1030G>T | NP_001373235.1:p.Ala344Ser |