Linked Data
ClinVar Variation Id:
403608
dbSNP Id:
rs4972450
ExAC:
2:175436940 G / A
gnomAD v2:
2-175436940-G-A
gnomAD v3:
2-174572212-G-A
gnomAD v4:
2-174572212-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.174572212G>A , CM000664.2:g.174572212G>A | GRCh38 |
| NC_000002.11:g.175436940G>A , CM000664.1:g.175436940G>A | GRCh37 |
| NC_000002.10:g.175145186G>A | NCBI36 |
| NG_032009.1:g.115688C>T , LRG_374:g.115688C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000436221.2:c.593C>T | ENSP00000388454.2:p.Pro198Leu | |
| ENST00000698666.1:n.598C>T | ||
| ENST00000698667.1:c.593C>T | ENSP00000513868.1:p.Pro198Leu | |
| ENST00000698668.1:c.593C>T | ENSP00000513869.1:p.Pro198Leu | |
| ENST00000698701.1:c.593C>T | ENSP00000513882.1:p.Pro198Leu | |
| ENST00000679041.1:c.593C>T MANE Select | ENSP00000503603.1:p.Pro198Leu | |
| ENST00000272746.9:c.593C>T | ENSP00000272746.5:p.Pro198Leu | |
| ENST00000359761.7:c.593C>T | ENSP00000352802.3:p.Pro198Leu | |
| ENST00000392546.6:c.593C>T | ENSP00000376329.2:p.Pro198Leu | |
| ENST00000392547.6:c.593C>T | ENSP00000376330.2:p.Pro198Leu | |
| ENST00000409415.7:c.593C>T | ENSP00000387150.3:p.Pro198Leu | |
| ENST00000409891.5:c.593C>T | ENSP00000386431.1:p.Pro198Leu | |
| ENST00000610916.4:c.593C>T | ENSP00000479992.1:p.Pro198Leu | |
| NM_001077269.1:c.593C>T , LRG_374t1:c.593C>T | NP_001070737.1:p.Pro198Leu | |
| NM_003387.4:c.593C>T | NP_003378.3:p.Pro198Leu | |
| XM_011511780.1:c.593C>T | XP_011510082.1:p.Pro198Leu | |
| XM_011511781.1:c.593C>T | XP_011510083.1:p.Pro198Leu | |
| XM_011511780.3:c.593C>T | XP_011510082.1:p.Pro198Leu | |
| NM_001375832.1:c.593C>T | NP_001362761.1:p.Pro198Leu | |
| NM_001375833.1:c.593C>T | NP_001362762.1:p.Pro198Leu | |
| NM_001375834.1:c.593C>T MANE Select | NP_001362763.1:p.Pro198Leu | |
| NM_001375835.1:c.593C>T | NP_001362764.1:p.Pro198Leu | |
| NM_001375836.1:c.593C>T | NP_001362765.1:p.Pro198Leu | |
| NM_001375837.1:c.593C>T | NP_001362766.1:p.Pro198Leu | |
| NM_001375838.1:c.593C>T | NP_001362767.1:p.Pro198Leu | |
| NM_001375839.1:c.215C>T | NP_001362768.1:p.Pro72Leu | |
| NM_003387.5:c.593C>T | NP_003378.3:p.Pro198Leu |