Linked Data
ClinVar Variation Id:
2208762
dbSNP Id:
rs148705070
ExAC:
5:126755817 A / G
gnomAD v2:
5-126755817-A-G
gnomAD v3:
5-127420125-A-G
gnomAD v4:
5-127420125-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.127420125A>G , CM000667.2:g.127420125A>G | GRCh38 |
| NC_000005.9:g.126755817A>G , CM000667.1:g.126755817A>G | GRCh37 |
| NC_000005.8:g.126783716A>G | NCBI36 |
| NG_032072.1:g.134362A>G | |
| NG_032072.2:g.134362A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000503335.7:c.1508A>G MANE Select | ENSP00000423354.2:p.Asn503Ser | |
| ENST00000274473.6:c.1508A>G | ENSP00000274473.6:p.Asn503Ser | |
| ENST00000418761.6:c.1508A>G | ENSP00000416284.2:p.Asn503Ser | |
| ENST00000503335.6:c.1508A>G | ENSP00000423354.2:p.Asn503Ser | |
| ENST00000508365.5:c.1508A>G | ENSP00000423195.1:p.Asn503Ser | |
| NM_001256545.1:c.1508A>G | NP_001243474.1:p.Asn503Ser | |
| NM_001308119.1:c.1508A>G | NP_001295048.1:p.Asn503Ser | |
| NM_001308121.1:c.1508A>G | NP_001295050.1:p.Asn503Ser | |
| NM_032446.2:c.1508A>G | NP_115822.1:p.Asn503Ser | |
| XM_011543692.1:c.1508A>G | XP_011541994.1:p.Asn503Ser | |
| XM_011543693.1:c.1508A>G | XP_011541995.1:p.Asn503Ser | |
| XM_011543694.1:c.1508A>G | XP_011541996.1:p.Asn503Ser | |
| XM_017009987.1:c.1673A>G | XP_016865476.1:p.Asn558Ser | |
| XM_017009988.1:c.368A>G | XP_016865477.1:p.Asn123Ser | |
| NM_001256545.2:c.1508A>G MANE Select | NP_001243474.1:p.Asn503Ser | |
| NM_032446.3:c.1508A>G | NP_115822.1:p.Asn503Ser | |
| NM_001308119.2:c.1508A>G | NP_001295048.1:p.Asn503Ser | |
| NM_001308121.2:c.1508A>G | NP_001295050.1:p.Asn503Ser |