Linked Data
ClinVar Variation Id:
448531
dbSNP Id:
rs141436407
ExAC:
5:179260613 A / G
gnomAD v2:
5-179260613-A-G
gnomAD v3:
5-179833613-A-G
gnomAD v4:
5-179833613-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.179833613A>G , CM000667.2:g.179833613A>G | GRCh38 |
| NC_000005.9:g.179260613A>G , CM000667.1:g.179260613A>G | GRCh37 |
| NC_000005.8:g.179193219A>G | NCBI36 |
| NG_011342.1:g.32226A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389805.9:c.996A>G MANE Select | ENSP00000374455.4:p.Ser332= | |
| ENST00000360718.5:c.744A>G | ENSP00000353944.5:p.Ser248= | |
| ENST00000389805.8:c.996A>G | ENSP00000374455.4:p.Ser332= | |
| ENST00000510187.5:c.950+386A>G | ENSP00000424477.1:n.950+386A>G | |
| NM_001142298.1:c.744A>G | NP_001135770.1:p.Ser248= | |
| NM_001142299.1:c.744A>G | NP_001135771.1:p.Ser248= | |
| NM_003900.4:c.996A>G | NP_003891.1:p.Ser332= | |
| XM_017010010.1:c.744A>G | XP_016865499.1:p.Ser248= | |
| NM_003900.5:c.996A>G MANE Select | NP_003891.1:p.Ser332= | |
| NM_001142298.2:c.744A>G | NP_001135770.1:p.Ser248= | |
| NM_001142299.2:c.744A>G | NP_001135771.1:p.Ser248= |