Linked Data
ClinVar Variation Id:
2738010
ClinVar RCV Id:
RCV003583642
dbSNP Id:
rs755549983
ExAC:
16:18810151 T / C
gnomAD v2:
16-18810151-T-C
gnomAD v4:
16-18798829-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.18798829T>C , CM000678.2:g.18798829T>C | GRCh38 |
| NC_000016.9:g.18810151T>C , CM000678.1:g.18810151T>C | GRCh37 |
| NC_000016.8:g.18717652T>C | NCBI36 |
| NG_042860.1:g.7850A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304414.12:c.42A>G MANE Select | ENSP00000306788.7:p.Ala14= | |
| ENST00000304414.11:c.42A>G | ENSP00000306788.7:p.Ala14= | |
| ENST00000546206.6:c.-46A>G | ENSP00000440048.2:n.-46A>G | |
| ENST00000562234.2:c.42A>G | ENSP00000455341.2:p.Ala14= | |
| ENST00000562819.5:c.42A>G | ENSP00000457372.1:p.Ala14= | |
| ENST00000563861.5:c.42A>G | ENSP00000456596.1:p.Ala14= | |
| ENST00000566391.1:n.148A>G | ||
| ENST00000567078.2:c.42A>G | ENSP00000454746.2:p.Ala14= | |
| ENST00000567969.1:n.120A>G | ||
| ENST00000569976.5:n.124A>G | ||
| NM_001313858.1:c.-46A>G | NP_001300787.1:n.-46A>G | |
| NM_015161.1:c.42A>G | NP_055976.1:p.Ala14= | |
| NM_015161.2:c.42A>G | NP_055976.1:p.Ala14= | |
| NM_015161.3:c.42A>G MANE Select | NP_055976.1:p.Ala14= |