Linked Data
ClinVar Variation Id:
193203
dbSNP Id:
rs3751884
ExAC:
16:1524850 A / G
gnomAD v2:
16-1524850-A-G
gnomAD v3:
16-1474849-A-G
gnomAD v4:
16-1474849-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1474849A>G , CM000678.2:g.1474849A>G | GRCh38 |
| NC_000016.9:g.1524850A>G , CM000678.1:g.1524850A>G | GRCh37 |
| NC_000016.8:g.1464851A>G | NCBI36 |
| NG_007567.1:g.5236T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699947.1:c.126T>C | ENSP00000514703.1:p.Pro42= | |
| ENST00000699948.1:c.126T>C | ENSP00000514704.1:p.Pro42= | |
| ENST00000699950.1:n.78T>C | ||
| ENST00000382745.9:c.126T>C MANE Select | ENSP00000372193.4:p.Pro42= | |
| ENST00000262318.12:c.126T>C | ENSP00000262318.8:p.Pro42= | |
| ENST00000382745.8:c.126T>C | ENSP00000372193.4:p.Pro42= | |
| ENST00000448525.5:c.126T>C | ENSP00000410907.1:p.Pro42= | |
| ENST00000561665.5:n.228T>C | ||
| ENST00000566812.1:n.229T>C | ||
| ENST00000567139.1:n.177T>C | ||
| NM_001114331.2:c.126T>C | NP_001107803.1:p.Pro42= | |
| NM_001287.5:c.126T>C | NP_001278.1:p.Pro42= | |
| NM_001287.6:c.126T>C MANE Select | NP_001278.1:p.Pro42= | |
| NM_001114331.3:c.126T>C | NP_001107803.1:p.Pro42= |