Linked Data
ClinVar Variation Id:
92697
dbSNP Id:
rs115888189
ExAC:
17:40693136 C / G
gnomAD v2:
17-40693136-C-G
gnomAD v3:
17-42541118-C-G
gnomAD v4:
17-42541118-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42541118C>G , CM000679.2:g.42541118C>G | GRCh38 |
| NC_000017.10:g.40693136C>G , CM000679.1:g.40693136C>G | GRCh37 |
| NC_000017.9:g.37946662C>G | NCBI36 |
| NG_011552.1:g.10186C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.7:c.933C>G MANE Select | ENSP00000225927.1:p.Ala311= | |
| ENST00000225927.6:c.933C>G | ENSP00000225927.1:p.Ala311= | |
| ENST00000591587.1:c.360-1910C>G | ENSP00000467836.1:n.360-1910C>G | |
| ENST00000592454.1:c.28C>G | ||
| NM_000263.3:c.933C>G | NP_000254.2:p.Ala311= | |
| XM_006721920.2:c.102C>G | XP_006721983.1:p.Ala34= | |
| XM_011524840.1:c.23-1910C>G | XP_011523142.1:n.23-1910C>G | |
| XM_017024687.1:c.102C>G | XP_016880176.1:p.Ala34= | |
| XM_024450771.1:c.990C>G | XP_024306539.1:p.Ala330= | |
| XM_024450772.1:c.23-1910C>G | XP_024306540.1:n.23-1910C>G | |
| NM_000263.4:c.933C>G MANE Select | NP_000254.2:p.Ala311= |