Linked Data
ClinVar Variation Id:
1710486
ClinVar RCV Id:
RCV002291493
dbSNP Id:
rs965226394
gnomAD v2:
17-40688671-C-G
gnomAD v4:
17-42536653-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42536653C>G , CM000679.2:g.42536653C>G | GRCh38 |
| NC_000017.10:g.40688671C>G , CM000679.1:g.40688671C>G | GRCh37 |
| NC_000017.9:g.37942197C>G | NCBI36 |
| NG_011552.1:g.5721C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.7:c.381C>G MANE Select | ENSP00000225927.1:p.Asn127Lys | |
| ENST00000225927.6:c.381C>G | ENSP00000225927.1:p.Asn127Lys | |
| ENST00000586516.5:c.131C>G | ||
| ENST00000591587.1:c.124C>G | ENSP00000467836.1:p.Gln42Glu | |
| NM_000263.3:c.381C>G | NP_000254.2:p.Asn127Lys | |
| XM_006721920.2:c.-362C>G | XP_006721983.1:n.-362C>G | |
| XM_011524840.1:c.-362C>G | XP_011523142.1:n.-362C>G | |
| XM_024450771.1:c.381C>G | XP_024306539.1:p.Asn127Lys | |
| NM_000263.4:c.381C>G MANE Select | NP_000254.2:p.Asn127Lys |