Linked Data
ClinVar Variation Id:
2988
dbSNP Id:
rs120074123
gnomAD v4:
11-6393278-A-G
PubMed:
PMID:1301192
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6393278A>G , CM000673.2:g.6393278A>G | GRCh38 |
| NC_000011.9:g.6414508A>G , CM000673.1:g.6414508A>G | GRCh37 |
| NC_000011.8:g.6371084A>G | NCBI36 |
| NG_011780.1:g.7854A>G | |
| NG_029615.1:g.31137T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342245.9:c.1154A>G MANE Select | ENSP00000340409.4:p.Asn385Ser | |
| ENST00000342245.8:c.1154A>G | ENSP00000340409.4:p.Asn385Ser | |
| ENST00000526280.1:c.321-339A>G | ||
| ENST00000527275.5:c.1151A>G | ENSP00000435350.1:p.Asn384Ser | |
| ENST00000531303.5:c.501A>G | ENSP00000432625.1:p.Glu167= | |
| ENST00000533123.5:c.1092-339A>G | ENSP00000435950.1:n.1092-339A>G | |
| ENST00000534405.5:c.1194A>G | ENSP00000434353.1:p.Glu398= | |
| NM_000543.4:c.1154A>G | NP_000534.3:p.Asn385Ser | |
| NM_001007593.2:c.1151A>G | NP_001007594.2:p.Asn384Ser | |
| XM_005253075.3:c.1154A>G | XP_005253132.1:p.Asn385Ser | |
| XM_011520303.1:c.1132-339A>G | XP_011518605.1:n.1132-339A>G | |
| XM_011520304.1:c.1132-339A>G | XP_011518606.1:n.1132-339A>G | |
| XR_930886.1:n.1492A>G | ||
| NM_001318087.1:c.1154A>G | NP_001305016.1:p.Asn385Ser | |
| NM_001318088.1:c.233A>G | NP_001305017.1:p.Asn78Ser | |
| NM_001365135.1:c.1132-339A>G | NP_001352064.1:n.1132-339A>G | |
| NR_027400.2:n.1277-339A>G | ||
| NR_134502.1:n.686A>G | ||
| XM_011520304.2:c.1132-339A>G | XP_011518606.1:n.1132-339A>G | |
| XR_001747940.2:n.1319A>G | ||
| XR_002957158.1:n.1319A>G | ||
| NM_000543.5:c.1154A>G MANE Select | NP_000534.3:p.Asn385Ser | |
| NM_001007593.3:c.1151A>G | NP_001007594.2:p.Asn384Ser | |
| NM_001318087.2:c.1154A>G | NP_001305016.1:p.Asn385Ser | |
| NM_001318088.2:c.233A>G | NP_001305017.1:p.Asn78Ser | |
| NM_001365135.2:c.1132-339A>G | NP_001352064.1:n.1132-339A>G | |
| NR_027400.3:n.1217-339A>G | ||
| NR_134502.2:n.626A>G |