Linked Data
ClinVar Variation Id:
318005
ClinVar RCV Id:
RCV000390334
dbSNP Id:
rs555330165
ExAC:
16:1570683 G / C
gnomAD v2:
16-1570683-G-C
gnomAD v3:
16-1520682-G-C
gnomAD v4:
16-1520682-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1520682G>C , CM000678.2:g.1520682G>C | GRCh38 |
| NC_000016.9:g.1570683G>C , CM000678.1:g.1570683G>C | GRCh37 |
| NC_000016.8:g.1510684G>C | NCBI36 |
| NG_032783.1:g.96427C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000426508.7:c.3580C>G MANE Select | ENSP00000406012.2:p.Gln1194Glu | |
| ENST00000361339.9:c.1162C>G | ENSP00000354895.5:p.Gln388Glu | |
| ENST00000397417.6:c.*2018C>G | ENSP00000380562.2:n.*2018C>G | |
| ENST00000426508.6:c.3580C>G | ENSP00000406012.2:p.Gln1194Glu | |
| ENST00000565298.5:n.3404C>G | ||
| NM_014714.3:c.3580C>G | NP_055529.2:p.Gln1194Glu | |
| XM_006720989.2:c.3580C>G | XP_006721052.1:p.Gln1194Glu | |
| XM_006720990.2:c.3580C>G | XP_006721053.1:p.Gln1194Glu | |
| XM_006720991.2:c.3580C>G | XP_006721054.1:p.Gln1194Glu | |
| XM_006720992.2:c.1213C>G | XP_006721055.1:p.Gln405Glu | |
| XM_011522766.1:c.3334C>G | XP_011521068.1:p.Gln1112Glu | |
| XM_011522767.1:c.2605C>G | XP_011521069.1:p.Gln869Glu | |
| XM_006720990.3:c.3580C>G | XP_006721053.1:p.Gln1194Glu | |
| XM_006720991.3:c.3580C>G | XP_006721054.1:p.Gln1194Glu | |
| XM_006720992.3:c.1213C>G | XP_006721055.1:p.Gln405Glu | |
| XM_011522766.3:c.3334C>G | XP_011521068.1:p.Gln1112Glu | |
| XM_011522767.2:c.2605C>G | XP_011521069.1:p.Gln869Glu | |
| XM_017023910.1:c.3580C>G | XP_016879399.1:p.Gln1194Glu | |
| XM_017023911.1:c.1765C>G | XP_016879400.1:p.Gln589Glu | |
| NM_014714.4:c.3580C>G MANE Select | NP_055529.2:p.Gln1194Glu |