Linked Data
ClinVar Variation Id:
854732
dbSNP Id:
rs1428528910
gnomAD v2:
X-49108198-C-T
gnomAD v3:
X-49251737-C-T
gnomAD v4:
X-49251737-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.49251737C>T , CM000685.2:g.49251737C>T | GRCh38 |
| NC_000023.10:g.49108198C>T , CM000685.1:g.49108198C>T | GRCh37 |
| NC_000023.9:g.48995142C>T | NCBI36 |
| NG_007392.1:g.18091G>A , LRG_62:g.18091G>A | |
| NG_021311.2:g.21273C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376199.7:c.968G>A | ENSP00000365372.2:p.Arg323Gln | |
| ENST00000376207.10:c.1073G>A MANE Select | ENSP00000365380.4:p.Arg358Gln | |
| ENST00000455775.7:c.1142G>A | ENSP00000396415.3:p.Arg381Gln | |
| ENST00000518685.6:c.992G>A | ENSP00000428952.2:p.Arg331Gln | |
| ENST00000557224.6:c.968G>A | ENSP00000451208.1:p.Arg323Gln | |
| ENST00000651307.1:c.996G>A | ENSP00000498454.1:p.Ala332= | |
| ENST00000376197.1:c.923G>A | ENSP00000365369.1:p.Arg308Gln | |
| ENST00000376199.6:c.968G>A | ENSP00000365372.2:p.Arg323Gln | |
| ENST00000376207.8:c.1073G>A | ENSP00000365380.4:p.Arg358Gln | |
| ENST00000455775.6:c.1142G>A | ENSP00000396415.3:p.Arg381Gln | |
| ENST00000518685.5:c.968G>A | ENSP00000428952.1:p.Arg323Gln | |
| ENST00000557224.5:c.968G>A | ENSP00000451208.1:p.Arg323Gln | |
| NM_001114377.1:c.968G>A | NP_001107849.1:p.Arg323Gln | |
| NM_014009.3:c.1073G>A , LRG_62t1:c.1073G>A | NP_054728.2:p.Arg358Gln | |
| XM_006724533.2:c.1142G>A | XP_006724596.2:p.Arg381Gln | |
| XM_011543915.1:c.1292G>A | XP_011542217.1:p.Arg431Gln | |
| XM_011543916.1:c.1292G>A | XP_011542218.1:p.Arg431Gln | |
| XM_011543917.1:c.1091G>A | XP_011542219.1:p.Arg364Gln | |
| XM_011543918.1:c.1328G>A | XP_011542220.1:p.Arg443Gln | |
| XM_011543919.1:c.1292G>A | XP_011542221.1:p.Arg431Gln | |
| XM_017029567.1:c.1019G>A | XP_016885056.1:p.Arg340Gln | |
| NM_001114377.2:c.968G>A | NP_001107849.1:p.Arg323Gln | |
| NM_014009.4:c.1073G>A MANE Select | NP_054728.2:p.Arg358Gln |