Linked Data
ClinVar Variation Id:
133053
ClinVar RCV Id:
RCV000119491
RCV000454682
RCV000525051
RCV001129438
RCV000990210
RCV001129439
RCV001449978
dbSNP Id:
rs193922860
ExAC:
19:39062846 G / A
gnomAD v2:
19-39062846-G-A
gnomAD v3:
19-38572206-G-A
gnomAD v4:
19-38572206-G-A
COSMIC:
COSM258580
ERepo:
CA024086/MONDO:0018493/012
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38572206G>A , CM000681.2:g.38572206G>A | GRCh38 |
| NC_000019.9:g.39062846G>A , CM000681.1:g.39062846G>A | GRCh37 |
| NC_000019.8:g.43754686G>A | NCBI36 |
| NG_008866.1:g.143507G>A , LRG_766:g.143507G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593677.2:c.870G>A | ||
| ENST00000688602.1:c.2267G>A | ||
| ENST00000689936.1:c.2239G>A | ||
| ENST00000359596.8:c.13934G>A MANE Select | ENSP00000352608.2:p.Arg4645Gln | |
| ENST00000355481.8:c.13919G>A | ENSP00000347667.3:p.Arg4640Gln | |
| ENST00000359596.7:c.13934G>A | ENSP00000352608.2:p.Arg4645Gln | |
| ENST00000360985.7:c.13916G>A | ENSP00000354254.4:p.Arg4639Gln | |
| ENST00000593677.1:c.394G>A | ||
| NM_000540.2:c.13934G>A , LRG_766t1:c.13934G>A | NP_000531.2:p.Arg4645Gln | |
| NM_001042723.1:c.13919G>A | NP_001036188.1:p.Arg4640Gln | |
| XM_006723317.1:c.13916G>A | XP_006723380.1:p.Arg4639Gln | |
| XM_006723319.1:c.13901G>A | XP_006723382.1:p.Arg4634Gln | |
| XM_011527204.1:c.13931G>A | XP_011525506.1:p.Arg4644Gln | |
| XM_011527205.1:c.13847G>A | XP_011525507.1:p.Arg4616Gln | |
| XM_006723317.2:c.13916G>A | XP_006723380.1:p.Arg4639Gln | |
| XM_006723319.2:c.13901G>A | XP_006723382.1:p.Arg4634Gln | |
| XM_011527205.2:c.13847G>A | XP_011525507.1:p.Arg4616Gln | |
| NM_000540.3:c.13934G>A MANE Select | NP_000531.2:p.Arg4645Gln | |
| NM_001042723.2:c.13919G>A | NP_001036188.1:p.Arg4640Gln |