Linked Data
ClinVar Variation Id:
2778164
ClinVar RCV Id:
RCV003641126
dbSNP Id:
rs748409131
ExAC:
5:56178239 G / T
gnomAD v2:
5-56178239-G-T
gnomAD v4:
5-56882412-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.56882412G>T , CM000667.2:g.56882412G>T | GRCh38 |
| NC_000005.9:g.56178239G>T , CM000667.1:g.56178239G>T | GRCh37 |
| NC_000005.8:g.56213996G>T | NCBI36 |
| NG_031884.1:g.72340G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399503.4:c.3212G>T MANE Select | ENSP00000382423.3:p.Ser1071Ile | |
| ENST00000399503.3:c.3212G>T | ENSP00000382423.3:p.Ser1071Ile | |
| NM_005921.1:c.3212G>T | NP_005912.1:p.Ser1071Ile | |
| XM_005248519.3:c.2834G>T | XP_005248576.2:p.Ser945Ile | |
| XM_011543406.1:c.2957G>T | XP_011541708.1:p.Ser986Ile | |
| XM_011543407.1:c.2933G>T | XP_011541709.1:p.Ser978Ile | |
| XM_011543408.1:c.3212G>T | XP_011541710.1:p.Ser1071Ile | |
| XM_017009484.1:c.2801G>T | XP_016864973.1:p.Ser934Ile | |
| XM_017009485.1:c.2723G>T | XP_016864974.1:p.Ser908Ile | |
| XR_001742068.2:n.3243G>T | ||
| NM_005921.2:c.3212G>T MANE Select | NP_005912.1:p.Ser1071Ile |