Linked Data
ClinVar Variation Id:
381284
ClinVar RCV Id:
RCV000439268
dbSNP Id:
rs1057521007
gnomAD v2:
X-55050224-C-T
gnomAD v3:
X-55023791-C-T
gnomAD v4:
X-55023791-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.55023791C>T , CM000685.2:g.55023791C>T | GRCh38 |
| NC_000023.10:g.55050224C>T , CM000685.1:g.55050224C>T | GRCh37 |
| NC_000023.9:g.55066949C>T | NCBI36 |
| NG_008983.1:g.12274G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000455688.2:c.165G>A | ENSP00000407204.2:p.Gly55= | |
| ENST00000477869.6:c.88+927G>A | ENSP00000496725.1:n.88+927G>A | |
| ENST00000493869.2:c.304+927G>A | ENSP00000495713.1:n.304+927G>A | |
| ENST00000644983.1:c.453G>A | ENSP00000495814.1:p.Gly151= | |
| ENST00000650242.1:c.381G>A MANE Select | ENSP00000497236.1:p.Gly127= | |
| ENST00000330807.9:c.381G>A | ENSP00000332369.5:p.Gly127= | |
| ENST00000335854.8:c.304+927G>A | ENSP00000337131.4:n.304+927G>A | |
| ENST00000396198.7:c.376+927G>A | ENSP00000379501.3:n.376+927G>A | |
| ENST00000455688.1:c.236G>A | ||
| ENST00000463868.5:n.355+927G>A | ||
| ENST00000477869.5:n.159+927G>A | ||
| ENST00000493869.1:n.355+927G>A | ||
| NM_000032.4:c.381G>A | NP_000023.2:p.Gly127= | |
| NM_001037967.3:c.304+927G>A | NP_001033056.1:n.304+927G>A | |
| NM_001037968.3:c.376+927G>A | NP_001033057.1:n.376+927G>A | |
| XM_005261995.2:c.453G>A | XP_005262052.1:p.Gly151= | |
| XM_011530771.1:c.-224+927G>A | XP_011529073.1:n.-224+927G>A | |
| NM_000032.5:c.381G>A MANE Select | NP_000023.2:p.Gly127= | |
| NM_001037967.4:c.304+927G>A | NP_001033056.1:n.304+927G>A | |
| NM_001037968.4:c.376+927G>A | NP_001033057.1:n.376+927G>A |