Linked Data
ClinVar Variation Id:
2884542
ClinVar RCV Id:
RCV003758015
dbSNP Id:
rs1973325120
MyVariant Identifiers:
chr19:g.39055658G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38565018G>A , CM000681.2:g.38565018G>A | GRCh38 |
| NC_000019.9:g.39055658G>A , CM000681.1:g.39055658G>A | GRCh37 |
| NC_000019.8:g.43747498G>A | NCBI36 |
| NG_008866.1:g.136319G>A , LRG_766:g.136319G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000688602.1:c.1094G>A | ||
| ENST00000689936.1:c.1076G>A | ||
| ENST00000359596.8:c.12684G>A MANE Select | ENSP00000352608.2:p.Glu4228= | |
| ENST00000355481.8:c.12669G>A | ENSP00000347667.3:p.Glu4223= | |
| ENST00000359596.7:c.12684G>A | ENSP00000352608.2:p.Glu4228= | |
| ENST00000360985.7:c.12666G>A | ENSP00000354254.4:p.Glu4222= | |
| ENST00000594335.5:c.6053G>A | ||
| NM_000540.2:c.12684G>A , LRG_766t1:c.12684G>A | NP_000531.2:p.Glu4228= | |
| NM_001042723.1:c.12669G>A | NP_001036188.1:p.Glu4223= | |
| XM_006723317.1:c.12666G>A | XP_006723380.1:p.Glu4222= | |
| XM_006723319.1:c.12651G>A | XP_006723382.1:p.Glu4217= | |
| XM_011527204.1:c.12681G>A | XP_011525506.1:p.Glu4227= | |
| XM_011527205.1:c.12684G>A | XP_011525507.1:p.Glu4228= | |
| XM_006723317.2:c.12666G>A | XP_006723380.1:p.Glu4222= | |
| XM_006723319.2:c.12651G>A | XP_006723382.1:p.Glu4217= | |
| XM_011527205.2:c.12684G>A | XP_011525507.1:p.Glu4228= | |
| NM_000540.3:c.12684G>A MANE Select | NP_000531.2:p.Glu4228= | |
| NM_001042723.2:c.12669G>A | NP_001036188.1:p.Glu4223= |