Linked Data
ClinVar Variation Id:
1755516
ClinVar RCV Id:
RCV002369484
dbSNP Id:
rs1198827347
gnomAD v2:
10-43572773-G-C
gnomAD v4:
10-43077325-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43077325G>C , CM000672.2:g.43077325G>C | GRCh38 |
| NC_000010.10:g.43572773G>C , CM000672.1:g.43572773G>C | GRCh37 |
| NC_000010.9:g.42892779G>C | NCBI36 |
| NG_007489.1:g.5257G>C , LRG_518:g.5257G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.67G>C | ENSP00000480088.2:p.Gly23Arg | |
| ENST00000340058.6:c.67G>C | ENSP00000344798.4:p.Gly23Arg | |
| ENST00000355710.8:c.67G>C MANE Select | ENSP00000347942.3:p.Gly23Arg | |
| ENST00000671844.1:c.67G>C | ENSP00000500541.1:p.Gly23Arg | |
| ENST00000672389.1:c.67G>C | ENSP00000500252.1:p.Gly23Arg | |
| ENST00000340058.5:c.67G>C | ENSP00000344798.4:p.Gly23Arg | |
| ENST00000355710.7:c.67G>C | ENSP00000347942.3:p.Gly23Arg | |
| ENST00000498820.5:c.67G>C | ENSP00000419080.1:p.Gly23Arg | |
| ENST00000615310.4:c.67G>C | ENSP00000480088.1:p.Gly23Arg | |
| NM_020630.4:c.67G>C , LRG_518t2:c.67G>C | NP_065681.1:p.Gly23Arg | |
| NM_020975.4:c.67G>C , LRG_518t1:c.67G>C | NP_066124.1:p.Gly23Arg | |
| XM_011540027.1:c.67G>C | XP_011538329.1:p.Gly23Arg | |
| NM_020630.5:c.67G>C | NP_065681.1:p.Gly23Arg | |
| NM_020975.5:c.67G>C | NP_066124.1:p.Gly23Arg | |
| NM_020975.6:c.67G>C MANE Select | NP_066124.1:p.Gly23Arg | |
| NM_020630.6:c.67G>C | NP_065681.1:p.Gly23Arg |