Linked Data
ClinVar Variation Id:
314375
dbSNP Id:
rs142124529
ExAC:
14:75508343 T / A
gnomAD v2:
14-75508343-T-A
gnomAD v3:
14-75041640-T-A
gnomAD v4:
14-75041640-T-A
PubMed:
PMID:25637381
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75041640T>A , CM000676.2:g.75041640T>A | GRCh38 |
| NC_000014.8:g.75508343T>A , CM000676.1:g.75508343T>A | GRCh37 |
| NC_000014.7:g.74578096T>A | NCBI36 |
| NG_008649.1:g.14893A>T , LRG_217:g.14893A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355774.7:c.3440A>T MANE Select | ENSP00000348020.2:p.Asn1147Ile | |
| ENST00000355774.6:c.3440A>T | ENSP00000348020.2:p.Asn1147Ile | |
| ENST00000380968.6:c.3440A>T | ENSP00000370355.3:p.Asn1147Ile | |
| ENST00000553713.5:c.511A>T | ||
| ENST00000555144.5:c.426A>T | ||
| ENST00000555499.1:n.173A>T | ||
| ENST00000555671.1:n.827-1625A>T | ||
| ENST00000556257.5:c.3280+4736A>T | ENSP00000451540.1:n.3280+4736A>T | |
| ENST00000556453.5:c.130A>T | ||
| ENST00000556740.5:c.3440A>T | ENSP00000452316.1:p.Asn1147Ile | |
| NM_001040108.1:c.3440A>T , LRG_217t1:c.3440A>T | NP_001035197.1:p.Asn1147Ile | |
| NM_014381.2:c.3440A>T | NP_055196.2:p.Asn1147Ile | |
| XM_005267531.3:c.3440A>T | XP_005267588.1:p.Asn1147Ile | |
| XM_005267532.3:c.3440A>T | XP_005267589.1:p.Asn1147Ile | |
| XM_005267533.3:c.3440A>T | XP_005267590.1:p.Asn1147Ile | |
| XM_005267534.2:c.3440A>T | XP_005267591.1:p.Asn1147Ile | |
| XM_006720116.2:c.3440A>T | XP_006720179.1:p.Asn1147Ile | |
| XM_011536646.1:c.3440A>T | XP_011534948.1:p.Asn1147Ile | |
| XM_011536647.1:c.3440A>T | XP_011534949.1:p.Asn1147Ile | |
| XM_011536648.1:c.3440A>T | XP_011534950.1:p.Asn1147Ile | |
| XR_245681.2:n.3656A>T | ||
| XM_005267532.5:c.3440A>T | XP_005267589.1:p.Asn1147Ile | |
| XM_005267533.5:c.3440A>T | XP_005267590.1:p.Asn1147Ile | |
| XM_005267534.3:c.3440A>T | XP_005267591.1:p.Asn1147Ile | |
| XM_006720116.4:c.3440A>T | XP_006720179.1:p.Asn1147Ile | |
| XM_011536646.3:c.3440A>T | XP_011534948.1:p.Asn1147Ile | |
| XM_017021219.2:c.3440A>T | XP_016876708.1:p.Asn1147Ile | |
| XM_024449538.1:c.3440A>T | XP_024305306.1:p.Asn1147Ile | |
| XM_024449539.1:c.-122A>T | XP_024305307.1:n.-122A>T | |
| XR_001750225.2:n.3603A>T | ||
| XR_001750227.2:n.3603A>T | ||
| XR_001750228.2:n.3603A>T | ||
| XR_001750229.2:n.3603A>T | ||
| XR_001750230.2:n.3603A>T | ||
| XR_002957544.1:n.3603A>T | ||
| XR_245681.4:n.3603A>T | ||
| NM_001040108.2:c.3440A>T MANE Select | NP_001035197.1:p.Asn1147Ile | |
| NM_014381.3:c.3440A>T | NP_055196.2:p.Asn1147Ile |