Linked Data
ClinVar Variation Id:
129120
dbSNP Id:
rs2481598
ExAC:
9:71650752 A / G
gnomAD v2:
9-71650752-A-G
gnomAD v3:
9-69035836-A-G
gnomAD v4:
9-69035836-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.69035836A>G , CM000671.2:g.69035836A>G | GRCh38 |
| NC_000009.11:g.71650752A>G , CM000671.1:g.71650752A>G | GRCh37 |
| NC_000009.10:g.70840572A>G | NCBI36 |
| NG_008845.2:g.5274A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000484259.3:c.54A>G MANE Select | ENSP00000419243.2:p.Pro18= | |
| ENST00000642330.1:c.54A>G | ENSP00000493770.1:p.Pro18= | |
| ENST00000642889.1:c.54A>G | ENSP00000493780.1:p.Pro18= | |
| ENST00000643352.1:c.54A>G | ENSP00000496488.1:p.Pro18= | |
| ENST00000643765.1:c.52A>G | ||
| ENST00000644653.1:c.54A>G | ENSP00000495217.1:p.Pro18= | |
| ENST00000644977.1:c.54A>G | ENSP00000495651.1:p.Pro18= | |
| ENST00000645088.1:c.54A>G | ENSP00000495447.1:p.Pro18= | |
| ENST00000646862.1:c.54A>G | ENSP00000494599.1:p.Pro18= | |
| ENST00000377270.7:c.54A>G | ENSP00000366482.3:p.Pro18= | |
| ENST00000396364.7:c.54A>G | ENSP00000379650.3:p.Pro18= | |
| ENST00000396366.6:c.54A>G | ENSP00000379652.2:p.Pro18= | |
| NM_000144.4:c.54A>G | NP_000135.2:p.Pro18= | |
| NM_001161706.1:c.54A>G | NP_001155178.1:p.Pro18= | |
| NM_181425.2:c.54A>G | NP_852090.1:p.Pro18= | |
| NM_000144.5:c.54A>G MANE Select | NP_000135.2:p.Pro18= | |
| NM_181425.3:c.54A>G | NP_852090.1:p.Pro18= |