Linked Data
ClinVar Variation Id:
1790712
ClinVar RCV Id:
RCV002450247
dbSNP Id:
rs1168334949
gnomAD v2:
10-43572729-C-T
gnomAD v4:
10-43077281-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43077281C>T , CM000672.2:g.43077281C>T | GRCh38 |
| NC_000010.10:g.43572729C>T , CM000672.1:g.43572729C>T | GRCh37 |
| NC_000010.9:g.42892735C>T | NCBI36 |
| NG_007489.1:g.5213C>T , LRG_518:g.5213C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.23C>T | ENSP00000480088.2:p.Ala8Val | |
| ENST00000340058.6:c.23C>T | ENSP00000344798.4:p.Ala8Val | |
| ENST00000355710.8:c.23C>T MANE Select | ENSP00000347942.3:p.Ala8Val | |
| ENST00000671844.1:c.23C>T | ENSP00000500541.1:p.Ala8Val | |
| ENST00000672389.1:c.23C>T | ENSP00000500252.1:p.Ala8Val | |
| ENST00000340058.5:c.23C>T | ENSP00000344798.4:p.Ala8Val | |
| ENST00000355710.7:c.23C>T | ENSP00000347942.3:p.Ala8Val | |
| ENST00000498820.5:c.23C>T | ENSP00000419080.1:p.Ala8Val | |
| ENST00000615310.4:c.23C>T | ENSP00000480088.1:p.Ala8Val | |
| NM_020630.4:c.23C>T , LRG_518t2:c.23C>T | NP_065681.1:p.Ala8Val | |
| NM_020975.4:c.23C>T , LRG_518t1:c.23C>T | NP_066124.1:p.Ala8Val | |
| XM_011540027.1:c.23C>T | XP_011538329.1:p.Ala8Val | |
| NM_020630.5:c.23C>T | NP_065681.1:p.Ala8Val | |
| NM_020975.5:c.23C>T | NP_066124.1:p.Ala8Val | |
| NM_020975.6:c.23C>T MANE Select | NP_066124.1:p.Ala8Val | |
| NM_020630.6:c.23C>T | NP_065681.1:p.Ala8Val |