Linked Data
ClinVar Variation Id:
48076
ClinVar RCV Id:
RCV000041361
RCV000182361
RCV000157293
RCV000620828
RCV000770763
RCV000801882
RCV001174247
RCV001258043
RCV001798224
dbSNP Id:
rs397517906
ExAC:
1:156104681 C / T
gnomAD v2:
1-156104681-C-T
gnomAD v4:
1-156134890-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156134890C>T , CM000663.2:g.156134890C>T | GRCh38 |
| NC_000001.10:g.156104681C>T , CM000663.1:g.156104681C>T | GRCh37 |
| NC_000001.9:g.154371305C>T | NCBI36 |
| NG_008692.2:g.57318C>T , LRG_254:g.57318C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504687.7:c.167C>T | ENSP00000426535.3:p.Ala56Val | |
| ENST00000682650.1:c.725C>T | ENSP00000506904.1:p.Ala242Val | |
| ENST00000683032.1:c.725C>T | ENSP00000506771.1:p.Ala242Val | |
| ENST00000684195.1:c.725C>T | ENSP00000508220.1:p.Ala242Val | |
| ENST00000361308.9:c.725C>T | ENSP00000355292.6:p.Ala242Val | |
| ENST00000368300.9:c.725C>T MANE Select | ENSP00000357283.4:p.Ala242Val | |
| ENST00000496738.6:n.1100C>T | ||
| ENST00000504687.6:c.61C>T | ENSP00000426535.2:p.Arg21Trp | |
| ENST00000674518.1:c.*75C>T | ENSP00000502261.1:n.*75C>T | |
| ENST00000674600.1:c.*524C>T | ENSP00000501666.1:n.*524C>T | |
| ENST00000674720.1:c.725C>T | ENSP00000502798.1:p.Ala242Val | |
| ENST00000675431.1:n.418C>T | ||
| ENST00000675455.1:c.*525C>T | ENSP00000501795.1:n.*525C>T | |
| ENST00000675667.1:c.725C>T | ENSP00000501803.1:p.Ala242Val | |
| ENST00000675874.1:c.*196C>T | ENSP00000501851.1:n.*196C>T | |
| ENST00000675881.1:c.725C>T | ENSP00000501670.1:p.Ala242Val | |
| ENST00000675939.1:c.725C>T | ENSP00000502256.1:p.Ala242Val | |
| ENST00000675989.1:n.1100C>T | ||
| ENST00000676208.1:c.725C>T | ENSP00000502468.1:p.Ala242Val | |
| ENST00000676283.1:n.1100C>T | ||
| ENST00000676385.2:c.725C>T | ENSP00000502091.1:p.Ala242Val | |
| ENST00000676434.1:c.725C>T | ENSP00000501648.1:p.Ala242Val | |
| ENST00000677389.1:c.725C>T MANE Plus Clinical | ENSP00000503633.1:p.Ala242Val | |
| ENST00000347559.6:c.725C>T | ENSP00000292304.3:p.Ala242Val | |
| ENST00000361308.8:c.725C>T | ENSP00000355292.5:p.Ala242Val | |
| ENST00000368297.5:c.482C>T | ENSP00000357280.1:p.Ala161Val | |
| ENST00000368299.7:c.725C>T | ENSP00000357282.3:p.Ala242Val | |
| ENST00000368300.8:c.725C>T | ENSP00000357283.4:p.Ala242Val | |
| ENST00000368301.6:c.725C>T | ENSP00000357284.2:p.Ala242Val | |
| ENST00000448611.6:c.389C>T | ENSP00000395597.2:p.Ala130Val | |
| ENST00000473598.6:c.428C>T | ENSP00000421821.1:p.Ala143Val | |
| ENST00000496738.5:n.70C>T | ||
| ENST00000504687.5:c.476C>T | ENSP00000426535.1:p.Ala159Val | |
| ENST00000515459.5:c.*399C>T | ENSP00000424518.1:n.*399C>T | |
| ENST00000515824.1:n.86C>T | ||
| NM_001257374.2:c.389C>T | NP_001244303.1:p.Ala130Val | |
| NM_001282624.1:c.482C>T | NP_001269553.1:p.Ala161Val | |
| NM_001282625.1:c.725C>T | NP_001269554.1:p.Ala242Val | |
| NM_001282626.1:c.725C>T | NP_001269555.1:p.Ala242Val | |
| NM_005572.3:c.725C>T , LRG_254t1:c.725C>T | NP_005563.1:p.Ala242Val | |
| NM_170707.3:c.725C>T | NP_733821.1:p.Ala242Val | |
| NM_170708.3:c.725C>T | NP_733822.1:p.Ala242Val | |
| XM_011509533.1:c.389C>T | XP_011507835.1:p.Ala130Val | |
| XM_011509534.1:c.61C>T | XP_011507836.1:p.Arg21Trp | |
| XR_921781.1:n.974C>T | ||
| XM_011509534.2:c.61C>T | XP_011507836.1:p.Arg21Trp | |
| XR_921781.2:n.972C>T | ||
| NM_170707.4:c.725C>T MANE Select | NP_733821.1:p.Ala242Val | |
| NM_001257374.3:c.389C>T | NP_001244303.1:p.Ala130Val | |
| NM_001282626.2:c.725C>T | NP_001269555.1:p.Ala242Val | |
| NM_001282624.2:c.482C>T | NP_001269553.1:p.Ala161Val | |
| NM_001282625.2:c.725C>T | NP_001269554.1:p.Ala242Val | |
| NM_005572.4:c.725C>T MANE Plus Clinical | NP_005563.1:p.Ala242Val | |
| NM_170708.4:c.725C>T | NP_733822.1:p.Ala242Val |