Linked Data
ClinVar Variation Id:
329126
ClinVar RCV Id:
RCV000271016
RCV000501104
RCV000302764
RCV001088212
RCV000727521
RCV000357600
RCV000363198
dbSNP Id:
rs748743312
ExAC:
19:39056324 G / A
gnomAD v2:
19-39056324-G-A
gnomAD v3:
19-38565684-G-A
gnomAD v4:
19-38565684-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38565684G>A , CM000681.2:g.38565684G>A | GRCh38 |
| NC_000019.9:g.39056324G>A , CM000681.1:g.39056324G>A | GRCh37 |
| NC_000019.8:g.43748164G>A | NCBI36 |
| NG_008866.1:g.136985G>A , LRG_766:g.136985G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593677.2:c.286G>A | ||
| ENST00000688602.1:c.1760G>A | ||
| ENST00000689936.1:c.1742G>A | ||
| ENST00000359596.8:c.13350G>A MANE Select | ENSP00000352608.2:p.Gly4450= | |
| ENST00000355481.8:c.13335G>A | ENSP00000347667.3:p.Gly4445= | |
| ENST00000359596.7:c.13350G>A | ENSP00000352608.2:p.Gly4450= | |
| ENST00000360985.7:c.13332G>A | ENSP00000354254.4:p.Gly4444= | |
| NM_000540.2:c.13350G>A , LRG_766t1:c.13350G>A | NP_000531.2:p.Gly4450= | |
| NM_001042723.1:c.13335G>A | NP_001036188.1:p.Gly4445= | |
| XM_006723317.1:c.13332G>A | XP_006723380.1:p.Gly4444= | |
| XM_006723319.1:c.13317G>A | XP_006723382.1:p.Gly4439= | |
| XM_011527204.1:c.13347G>A | XP_011525506.1:p.Gly4449= | |
| XM_011527205.1:c.13350G>A | XP_011525507.1:p.Gly4450= | |
| XM_006723317.2:c.13332G>A | XP_006723380.1:p.Gly4444= | |
| XM_006723319.2:c.13317G>A | XP_006723382.1:p.Gly4439= | |
| XM_011527205.2:c.13350G>A | XP_011525507.1:p.Gly4450= | |
| NM_000540.3:c.13350G>A MANE Select | NP_000531.2:p.Gly4450= | |
| NM_001042723.2:c.13335G>A | NP_001036188.1:p.Gly4445= |