Linked Data
ClinVar Variation Id:
1562887
ClinVar RCV Id:
RCV002206719
dbSNP Id:
rs2123284228
MyVariant Identifiers:
chr19:g.42373258G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41869188G>A , CM000681.2:g.41869188G>A | GRCh38 |
| NC_000019.9:g.42373258G>A , CM000681.1:g.42373258G>A | GRCh37 |
| NC_000019.8:g.47065098G>A | NCBI36 |
| NG_007080.2:g.14271G>A | |
| NG_007080.3:g.14271G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000598742.6:c.330G>A MANE Select | ENSP00000470972.1:p.Leu110= | |
| ENST00000600467.6:c.330G>A | ENSP00000469228.2:p.Leu110= | |
| ENST00000221975.6:c.108G>A | ENSP00000221975.2:p.Leu36= | |
| ENST00000593863.5:c.330G>A | ENSP00000470004.1:p.Leu110= | |
| ENST00000598399.1:c.1168G>A | ENSP00000472660.1:n.1168G>A | |
| ENST00000598742.5:c.330G>A | ENSP00000470972.1:p.Leu110= | |
| NM_001022.3:c.330G>A | NP_001013.1:p.Leu110= | |
| NM_001321483.1:c.330G>A | NP_001308412.1:p.Leu110= | |
| NM_001321484.1:c.330G>A | NP_001308413.1:p.Leu110= | |
| NM_001321485.1:c.343G>A | NP_001308414.1:p.Glu115Lys | |
| XM_017027113.2:c.330G>A | XP_016882602.1:p.Leu110= | |
| NM_001022.4:c.330G>A MANE Select | NP_001013.1:p.Leu110= | |
| NM_001321483.2:c.330G>A | NP_001308412.1:p.Leu110= | |
| NM_001321484.2:c.330G>A | NP_001308413.1:p.Leu110= | |
| NM_001321485.2:c.343G>A | NP_001308414.1:p.Glu115Lys |