Linked Data
ClinVar Variation Id:
41840
dbSNP Id:
rs199882293
ExAC:
10:43613824 A / T
gnomAD v2:
10-43613824-A-T
gnomAD v3:
10-43118376-A-T
gnomAD v4:
10-43118376-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43118376A>T , CM000672.2:g.43118376A>T | GRCh38 |
| NC_000010.10:g.43613824A>T , CM000672.1:g.43613824A>T | GRCh37 |
| NC_000010.9:g.42933830A>T | NCBI36 |
| NG_007489.1:g.46308A>T , LRG_518:g.46308A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.1892A>T | ENSP00000480088.2:p.Asn631Ile | |
| ENST00000683007.1:n.1862A>T | ||
| ENST00000683872.1:n.1853A>T | ||
| ENST00000340058.6:c.2288A>T | ENSP00000344798.4:p.Asn763Ile | |
| ENST00000355710.8:c.2288A>T MANE Select | ENSP00000347942.3:p.Asn763Ile | |
| ENST00000671844.1:c.*882A>T | ENSP00000500541.1:n.*882A>T | |
| ENST00000672389.1:c.*882A>T | ENSP00000500252.1:n.*882A>T | |
| ENST00000340058.5:c.2288A>T | ENSP00000344798.4:p.Asn763Ile | |
| ENST00000355710.7:c.2288A>T | ENSP00000347942.3:p.Asn763Ile | |
| ENST00000615310.4:c.1290-1326A>T | ENSP00000480088.1:n.1290-1326A>T | |
| NM_020630.4:c.2288A>T , LRG_518t2:c.2288A>T | NP_065681.1:p.Asn763Ile | |
| NM_020975.4:c.2288A>T , LRG_518t1:c.2288A>T | NP_066124.1:p.Asn763Ile | |
| XM_011540027.1:c.2288A>T | XP_011538329.1:p.Asn763Ile | |
| NM_001355216.1:c.1526A>T | NP_001342145.1:p.Asn509Ile | |
| NM_020630.5:c.2288A>T | NP_065681.1:p.Asn763Ile | |
| NM_020975.5:c.2288A>T | NP_066124.1:p.Asn763Ile | |
| NM_020975.6:c.2288A>T MANE Select | NP_066124.1:p.Asn763Ile | |
| NM_020630.6:c.2288A>T | NP_065681.1:p.Asn763Ile |