Linked Data
ClinVar Variation Id:
5564
ClinVar RCV Id:
RCV002362565
dbSNP Id:
rs121908439
ExAC:
14:75498772 A / G
gnomAD v2:
14-75498772-A-G
gnomAD v3:
14-75032069-A-G
gnomAD v4:
14-75032069-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75032069A>G , CM000676.2:g.75032069A>G | GRCh38 |
| NC_000014.8:g.75498772A>G , CM000676.1:g.75498772A>G | GRCh37 |
| NC_000014.7:g.74568525A>G | NCBI36 |
| NG_008649.1:g.24464T>C , LRG_217:g.24464T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355774.7:c.3826T>C MANE Select | ENSP00000348020.2:p.Trp1276Arg | |
| ENST00000355774.6:c.3826T>C | ENSP00000348020.2:p.Trp1276Arg | |
| ENST00000380968.6:c.3754T>C | ENSP00000370355.3:p.Trp1252Arg | |
| ENST00000553713.5:c.897T>C | ||
| ENST00000555144.5:c.857T>C | ||
| ENST00000555499.1:n.381T>C | ||
| ENST00000556257.5:c.3281-1354T>C | ENSP00000451540.1:n.3281-1354T>C | |
| ENST00000556453.5:c.371T>C | ||
| ENST00000556740.5:c.3826T>C | ENSP00000452316.1:p.Trp1276Arg | |
| NM_001040108.1:c.3826T>C , LRG_217t1:c.3826T>C | NP_001035197.1:p.Trp1276Arg | |
| NM_014381.2:c.3754T>C | NP_055196.2:p.Trp1252Arg | |
| XM_005267531.3:c.3826T>C | XP_005267588.1:p.Trp1276Arg | |
| XM_005267532.3:c.3721T>C | XP_005267589.1:p.Trp1241Arg | |
| XM_005267533.3:c.3649T>C | XP_005267590.1:p.Trp1217Arg | |
| XM_005267534.2:c.3826T>C | XP_005267591.1:p.Ter1276Arg | |
| XM_006720116.2:c.3826T>C | XP_006720179.1:p.Trp1276Arg | |
| XM_011536646.1:c.3644-1354T>C | XP_011534948.1:n.3644-1354T>C | |
| XM_011536647.1:c.3826T>C | XP_011534949.1:p.Trp1276Arg | |
| XR_245681.2:n.4042T>C | ||
| XM_005267532.5:c.3721T>C | XP_005267589.1:p.Trp1241Arg | |
| XM_005267533.5:c.3649T>C | XP_005267590.1:p.Trp1217Arg | |
| XM_005267534.3:c.3826T>C | XP_005267591.1:p.Ter1276Arg | |
| XM_006720116.4:c.3826T>C | XP_006720179.1:p.Trp1276Arg | |
| XM_011536646.3:c.3644-1354T>C | XP_011534948.1:n.3644-1354T>C | |
| XM_017021219.2:c.3754T>C | XP_016876708.1:p.Trp1252Arg | |
| XM_024449538.1:c.3721T>C | XP_024305306.1:p.Trp1241Arg | |
| XM_024449539.1:c.274T>C | XP_024305307.1:p.Trp92Arg | |
| XR_001750225.2:n.3917T>C | ||
| XR_001750227.2:n.3989T>C | ||
| XR_001750228.2:n.3989T>C | ||
| XR_001750229.2:n.3884T>C | ||
| XR_001750230.2:n.3884T>C | ||
| XR_002957544.1:n.3998T>C | ||
| XR_245681.4:n.3989T>C | ||
| NM_001040108.2:c.3826T>C MANE Select | NP_001035197.1:p.Trp1276Arg | |
| NM_014381.3:c.3754T>C | NP_055196.2:p.Trp1252Arg |