Linked Data
ClinVar Variation Id:
486315
dbSNP Id:
rs780756440
ExAC:
10:43600510 C / A
gnomAD v2:
10-43600510-C-A
gnomAD v3:
10-43105062-C-A
gnomAD v4:
10-43105062-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43105062C>A , CM000672.2:g.43105062C>A | GRCh38 |
| NC_000010.10:g.43600510C>A , CM000672.1:g.43600510C>A | GRCh37 |
| NC_000010.9:g.42920516C>A | NCBI36 |
| NG_007489.1:g.32994C>A , LRG_518:g.32994C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.736C>A | ENSP00000480088.2:p.His246Asn | |
| ENST00000683007.1:n.310C>A | ||
| ENST00000340058.6:c.736C>A | ENSP00000344798.4:p.His246Asn | |
| ENST00000355710.8:c.736C>A MANE Select | ENSP00000347942.3:p.His246Asn | |
| ENST00000671844.1:c.625+2433C>A | ENSP00000500541.1:n.625+2433C>A | |
| ENST00000672389.1:c.74-6145C>A | ENSP00000500252.1:n.74-6145C>A | |
| ENST00000340058.5:c.736C>A | ENSP00000344798.4:p.His246Asn | |
| ENST00000355710.7:c.736C>A | ENSP00000347942.3:p.His246Asn | |
| ENST00000479913.1:n.331C>A | ||
| ENST00000498820.5:c.74-7037C>A | ENSP00000419080.1:n.74-7037C>A | |
| ENST00000615310.4:c.736C>A | ENSP00000480088.1:p.His246Asn | |
| NM_020630.4:c.736C>A , LRG_518t2:c.736C>A | NP_065681.1:p.His246Asn | |
| NM_020975.4:c.736C>A , LRG_518t1:c.736C>A | NP_066124.1:p.His246Asn | |
| XM_011540027.1:c.736C>A | XP_011538329.1:p.His246Asn | |
| NM_001355216.1:c.-27C>A | NP_001342145.1:n.-27C>A | |
| NM_020630.5:c.736C>A | NP_065681.1:p.His246Asn | |
| NM_020975.5:c.736C>A | NP_066124.1:p.His246Asn | |
| NM_020975.6:c.736C>A MANE Select | NP_066124.1:p.His246Asn | |
| NM_020630.6:c.736C>A | NP_065681.1:p.His246Asn |