Linked Data
ClinVar Variation Id:
819611
dbSNP Id:
rs876658438
MyVariant Identifiers:
chr16:g.23652464G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23641143G>C , CM000678.2:g.23641143G>C | GRCh38 |
| NC_000016.9:g.23652464G>C , CM000678.1:g.23652464G>C | GRCh37 |
| NC_000016.8:g.23559965G>C | NCBI36 |
| NG_007406.1:g.5215C>G , LRG_308:g.5215C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561514.3:c.-838C>G | ENSP00000460666.3:n.-838C>G | |
| ENST00000565038.2:c.15C>G | ENSP00000459882.2:p.Pro5= | |
| ENST00000566069.6:c.15C>G | ENSP00000459237.2:p.Pro5= | |
| ENST00000697377.2:c.-225C>G | ENSP00000513286.2:n.-225C>G | |
| ENST00000697379.2:c.-131C>G | ENSP00000513287.2:n.-131C>G | |
| ENST00000561514.2:c.-1729C>G | ENSP00000460666.2:n.-1729C>G | |
| ENST00000697374.1:c.-1320C>G | ENSP00000513284.1:n.-1320C>G | |
| ENST00000697376.1:c.-1041C>G | ENSP00000513285.1:n.-1041C>G | |
| ENST00000697377.1:c.-1116C>G | ENSP00000513286.1:n.-1116C>G | |
| ENST00000697379.1:c.-1022C>G | ENSP00000513287.1:n.-1022C>G | |
| ENST00000697382.1:c.-1780C>G | ENSP00000513288.1:n.-1780C>G | |
| ENST00000697383.1:c.15C>G | ENSP00000513289.1:p.Pro5= | |
| ENST00000697384.1:n.169C>G | ||
| ENST00000261584.9:c.15C>G MANE Select | ENSP00000261584.4:p.Pro5= | |
| ENST00000261584.8:c.15C>G | ENSP00000261584.4:p.Pro5= | |
| ENST00000567003.1:n.159C>G | ||
| ENST00000568219.5:c.-854C>G | ENSP00000454703.2:n.-854C>G | |
| NM_024675.3:c.15C>G , LRG_308t1:c.15C>G | NP_078951.2:p.Pro5= | |
| XM_011545948.1:c.-1005C>G | XP_011544250.1:n.-1005C>G | |
| XM_011545946.2:c.-838C>G | XP_011544248.1:n.-838C>G | |
| XM_011545947.2:c.-838C>G | XP_011544249.1:n.-838C>G | |
| XM_011545948.2:c.-1005C>G | XP_011544250.1:n.-1005C>G | |
| XM_017023671.1:c.-838C>G | XP_016879160.1:n.-838C>G | |
| XM_017023672.2:c.15C>G | XP_016879161.1:p.Pro5= | |
| XM_017023673.2:c.15C>G | XP_016879162.1:p.Pro5= | |
| NM_024675.4:c.15C>G MANE Select | NP_078951.2:p.Pro5= |