Linked Data
ClinVar Variation Id:
1407098
ClinVar RCV Id:
RCV001937713
dbSNP Id:
rs774432541
ExAC:
19:39034423 G / A
gnomAD v2:
19-39034423-G-A
gnomAD v4:
19-38543783-G-A
COSMIC:
COSM6200663
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38543783G>A , CM000681.2:g.38543783G>A | GRCh38 |
| NC_000019.9:g.39034423G>A , CM000681.1:g.39034423G>A | GRCh37 |
| NC_000019.8:g.43726263G>A | NCBI36 |
| NG_008866.1:g.115084G>A , LRG_766:g.115084G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000688602.1:c.330G>A | ||
| ENST00000689936.1:c.312G>A | ||
| ENST00000359596.8:c.11920G>A MANE Select | ENSP00000352608.2:p.Gly3974Arg | |
| ENST00000355481.8:c.11905G>A | ENSP00000347667.3:p.Gly3969Arg | |
| ENST00000359596.7:c.11920G>A | ENSP00000352608.2:p.Gly3974Arg | |
| ENST00000360985.7:c.11902G>A | ENSP00000354254.4:p.Gly3968Arg | |
| ENST00000593322.1:c.529G>A | ||
| ENST00000594335.5:c.5289G>A | ||
| NM_000540.2:c.11920G>A , LRG_766t1:c.11920G>A | NP_000531.2:p.Gly3974Arg | |
| NM_001042723.1:c.11905G>A | NP_001036188.1:p.Gly3969Arg | |
| XM_006723317.1:c.11902G>A | XP_006723380.1:p.Gly3968Arg | |
| XM_006723319.1:c.11887G>A | XP_006723382.1:p.Gly3963Arg | |
| XM_011527204.1:c.11917G>A | XP_011525506.1:p.Gly3973Arg | |
| XM_011527205.1:c.11920G>A | XP_011525507.1:p.Gly3974Arg | |
| XM_006723317.2:c.11902G>A | XP_006723380.1:p.Gly3968Arg | |
| XM_006723319.2:c.11887G>A | XP_006723382.1:p.Gly3963Arg | |
| XM_011527205.2:c.11920G>A | XP_011525507.1:p.Gly3974Arg | |
| NM_000540.3:c.11920G>A MANE Select | NP_000531.2:p.Gly3974Arg | |
| NM_001042723.2:c.11905G>A | NP_001036188.1:p.Gly3969Arg |