Linked Data
ClinVar Variation Id:
257252
dbSNP Id:
rs175080
ExAC:
14:75513828 G / A
gnomAD v2:
14-75513828-G-A
gnomAD v3:
14-75047125-G-A
gnomAD v4:
14-75047125-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75047125G>A , CM000676.2:g.75047125G>A | GRCh38 |
| NC_000014.8:g.75513828G>A , CM000676.1:g.75513828G>A | GRCh37 |
| NC_000014.7:g.74583581G>A | NCBI36 |
| NG_008649.1:g.9408C>T , LRG_217:g.9408C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355774.7:c.2531C>T MANE Select | ENSP00000348020.2:p.Pro844Leu | |
| ENST00000355774.6:c.2531C>T | ENSP00000348020.2:p.Pro844Leu | |
| ENST00000380968.6:c.2531C>T | ENSP00000370355.3:p.Pro844Leu | |
| ENST00000555671.1:n.77C>T | ||
| ENST00000556257.5:c.2531C>T | ENSP00000451540.1:p.Pro844Leu | |
| ENST00000556740.5:c.2531C>T | ENSP00000452316.1:p.Pro844Leu | |
| NM_001040108.1:c.2531C>T , LRG_217t1:c.2531C>T | NP_001035197.1:p.Pro844Leu | |
| NM_014381.2:c.2531C>T | NP_055196.2:p.Pro844Leu | |
| XM_005267531.3:c.2531C>T | XP_005267588.1:p.Pro844Leu | |
| XM_005267532.3:c.2531C>T | XP_005267589.1:p.Pro844Leu | |
| XM_005267533.3:c.2531C>T | XP_005267590.1:p.Pro844Leu | |
| XM_005267534.2:c.2531C>T | XP_005267591.1:p.Pro844Leu | |
| XM_006720116.2:c.2531C>T | XP_006720179.1:p.Pro844Leu | |
| XM_011536646.1:c.2531C>T | XP_011534948.1:p.Pro844Leu | |
| XM_011536647.1:c.2531C>T | XP_011534949.1:p.Pro844Leu | |
| XM_011536648.1:c.2531C>T | XP_011534950.1:p.Pro844Leu | |
| XR_245681.2:n.2747C>T | ||
| XM_005267532.5:c.2531C>T | XP_005267589.1:p.Pro844Leu | |
| XM_005267533.5:c.2531C>T | XP_005267590.1:p.Pro844Leu | |
| XM_005267534.3:c.2531C>T | XP_005267591.1:p.Pro844Leu | |
| XM_006720116.4:c.2531C>T | XP_006720179.1:p.Pro844Leu | |
| XM_011536646.3:c.2531C>T | XP_011534948.1:p.Pro844Leu | |
| XM_017021219.2:c.2531C>T | XP_016876708.1:p.Pro844Leu | |
| XM_024449538.1:c.2531C>T | XP_024305306.1:p.Pro844Leu | |
| XR_001750225.2:n.2694C>T | ||
| XR_001750227.2:n.2694C>T | ||
| XR_001750228.2:n.2694C>T | ||
| XR_001750229.2:n.2694C>T | ||
| XR_001750230.2:n.2694C>T | ||
| XR_002957544.1:n.2694C>T | ||
| XR_245681.4:n.2694C>T | ||
| NM_001040108.2:c.2531C>T MANE Select | NP_001035197.1:p.Pro844Leu | |
| NM_014381.3:c.2531C>T | NP_055196.2:p.Pro844Leu |