Linked Data
ClinVar Variation Id:
2296304
ClinVar RCV Id:
RCV004145161
dbSNP Id:
rs375110953
ExAC:
16:4812682 G / C
gnomAD v2:
16-4812682-G-C
gnomAD v3:
16-4762681-G-C
gnomAD v4:
16-4762681-G-C
COSMIC:
COSM5980911
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.4762681G>C , CM000678.2:g.4762681G>C | GRCh38 |
| NC_000016.9:g.4812682G>C , CM000678.1:g.4812682G>C | GRCh37 |
| NC_000016.8:g.4752683G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219478.11:c.490C>G MANE Select | ENSP00000219478.5:p.Gln164Glu | |
| ENST00000219478.10:c.490C>G | ENSP00000219478.5:p.Gln164Glu | |
| ENST00000545009.1:c.490C>G | ENSP00000445714.1:p.Gln164Glu | |
| ENST00000589422.1:c.*18C>G | ENSP00000466375.1:n.*18C>G | |
| NM_001303450.1:c.490C>G | NP_001290379.1:p.Gln164Glu | |
| NM_021646.2:c.490C>G | NP_067678.1:p.Gln164Glu | |
| XM_005255243.2:c.139C>G | XP_005255300.1:p.Gln47Glu | |
| XM_011522453.1:c.490C>G | XP_011520755.1:p.Gln164Glu | |
| XM_011522454.1:c.-135C>G | XP_011520756.1:n.-135C>G | |
| NM_021646.3:c.490C>G | NP_067678.1:p.Gln164Glu | |
| XM_005255243.4:c.139C>G | XP_005255300.1:p.Gln47Glu | |
| XM_011522453.2:c.490C>G | XP_011520755.1:p.Gln164Glu | |
| XM_011522454.3:c.-135C>G | XP_011520756.1:n.-135C>G | |
| XM_017023121.2:c.-135C>G | XP_016878610.1:n.-135C>G | |
| NM_001303450.2:c.490C>G | NP_001290379.1:p.Gln164Glu | |
| NM_021646.4:c.490C>G MANE Select | NP_067678.1:p.Gln164Glu |