Linked Data
ClinVar Variation Id:
1337865
dbSNP Id:
rs563304338
ExAC:
5:56177615 T / C
gnomAD v2:
5-56177615-T-C
gnomAD v3:
5-56881788-T-C
gnomAD v4:
5-56881788-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.56881788T>C , CM000667.2:g.56881788T>C | GRCh38 |
| NC_000005.9:g.56177615T>C , CM000667.1:g.56177615T>C | GRCh37 |
| NC_000005.8:g.56213372T>C | NCBI36 |
| NG_031884.1:g.71716T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399503.4:c.2588T>C MANE Select | ENSP00000382423.3:p.Val863Ala | |
| ENST00000399503.3:c.2588T>C | ENSP00000382423.3:p.Val863Ala | |
| NM_005921.1:c.2588T>C | NP_005912.1:p.Val863Ala | |
| XM_005248519.3:c.2210T>C | XP_005248576.2:p.Val737Ala | |
| XM_011543406.1:c.2333T>C | XP_011541708.1:p.Val778Ala | |
| XM_011543407.1:c.2309T>C | XP_011541709.1:p.Val770Ala | |
| XM_011543408.1:c.2588T>C | XP_011541710.1:p.Val863Ala | |
| XM_017009484.1:c.2177T>C | XP_016864973.1:p.Val726Ala | |
| XM_017009485.1:c.2099T>C | XP_016864974.1:p.Val700Ala | |
| XR_001742068.2:n.2619T>C | ||
| NM_005921.2:c.2588T>C MANE Select | NP_005912.1:p.Val863Ala |