Linked Data
ClinVar Variation Id:
1154175
ClinVar RCV Id:
RCV001496063
dbSNP Id:
rs745311427
ExAC:
19:39034270 G / A
gnomAD v2:
19-39034270-G-A
gnomAD v3:
19-38543630-G-A
gnomAD v4:
19-38543630-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38543630G>A , CM000681.2:g.38543630G>A | GRCh38 |
| NC_000019.9:g.39034270G>A , CM000681.1:g.39034270G>A | GRCh37 |
| NC_000019.8:g.43726110G>A | NCBI36 |
| NG_008866.1:g.114931G>A , LRG_766:g.114931G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000688602.1:c.287G>A | ||
| ENST00000689936.1:c.269G>A | ||
| ENST00000359596.8:c.11877G>A MANE Select | ENSP00000352608.2:p.Gln3959= | |
| ENST00000355481.8:c.11862G>A | ENSP00000347667.3:p.Gln3954= | |
| ENST00000359596.7:c.11877G>A | ENSP00000352608.2:p.Gln3959= | |
| ENST00000360985.7:c.11859G>A | ENSP00000354254.4:p.Gln3953= | |
| ENST00000593322.1:c.486G>A | ||
| ENST00000594335.5:c.5246G>A | ||
| NM_000540.2:c.11877G>A , LRG_766t1:c.11877G>A | NP_000531.2:p.Gln3959= | |
| NM_001042723.1:c.11862G>A | NP_001036188.1:p.Gln3954= | |
| XM_006723317.1:c.11859G>A | XP_006723380.1:p.Gln3953= | |
| XM_006723319.1:c.11844G>A | XP_006723382.1:p.Gln3948= | |
| XM_011527204.1:c.11874G>A | XP_011525506.1:p.Gln3958= | |
| XM_011527205.1:c.11877G>A | XP_011525507.1:p.Gln3959= | |
| XM_006723317.2:c.11859G>A | XP_006723380.1:p.Gln3953= | |
| XM_006723319.2:c.11844G>A | XP_006723382.1:p.Gln3948= | |
| XM_011527205.2:c.11877G>A | XP_011525507.1:p.Gln3959= | |
| NM_000540.3:c.11877G>A MANE Select | NP_000531.2:p.Gln3959= | |
| NM_001042723.2:c.11862G>A | NP_001036188.1:p.Gln3954= |