Linked Data
ClinVar Variation Id:
2868930
ClinVar RCV Id:
RCV003705205
dbSNP Id:
rs781431070
ExAC:
5:33984419 C / T
gnomAD v2:
5-33984419-C-T
gnomAD v3:
5-33984314-C-T
gnomAD v4:
5-33984314-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.33984314C>T , CM000667.2:g.33984314C>T | GRCh38 |
| NC_000005.9:g.33984419C>T , CM000667.1:g.33984419C>T | GRCh37 |
| NC_000005.8:g.34020176C>T | NCBI36 |
| NG_011691.2:g.5362G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296589.9:c.270G>A MANE Select | ENSP00000296589.4:p.Ser90= | |
| ENST00000296589.8:c.270G>A | ENSP00000296589.4:p.Ser90= | |
| ENST00000382102.7:c.270G>A | ENSP00000371534.3:p.Ser90= | |
| ENST00000505056.1:n.249G>A | ||
| ENST00000509381.1:c.270G>A | ENSP00000421100.1:p.Ser90= | |
| NM_001012509.3:c.270G>A | NP_001012527.1:p.Ser90= | |
| NM_001297417.2:c.270G>A | NP_001284346.2:p.Ser90= | |
| NM_016180.4:c.270G>A | NP_057264.3:p.Ser90= | |
| XM_011514052.1:c.270G>A | XP_011512354.1:p.Ser90= | |
| XR_925620.1:n.831G>A | ||
| NM_016180.5:c.270G>A MANE Select | NP_057264.4:p.Ser90= | |
| NM_001012509.4:c.270G>A | NP_001012527.2:p.Ser90= | |
| NM_001297417.3:c.270G>A | NP_001284346.2:p.Ser90= | |
| NM_001297417.4:c.270G>A | NP_001284346.2:p.Ser90= |