Linked Data
dbSNP Id:
rs1971017682
gnomAD v3:
19-38517369-C-A
gnomAD v4:
19-38517369-C-A
MyVariant Identifiers:
chr19:g.39008009C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38517369C>A , CM000681.2:g.38517369C>A | GRCh38 |
| NC_000019.9:g.39008009C>A , CM000681.1:g.39008009C>A | GRCh37 |
| NC_000019.8:g.43699849C>A | NCBI36 |
| NG_008866.1:g.88670C>A , LRG_766:g.88670C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000599547.6:c.9635C>A | ENSP00000471601.2:n.9635C>A | |
| ENST00000359596.8:c.9696C>A MANE Select | ENSP00000352608.2:p.Leu3232= | |
| ENST00000355481.8:c.9696C>A | ENSP00000347667.3:p.Leu3232= | |
| ENST00000359596.7:c.9696C>A | ENSP00000352608.2:p.Leu3232= | |
| ENST00000360985.7:c.9693C>A | ENSP00000354254.4:p.Leu3231= | |
| ENST00000594335.5:c.3098C>A | ||
| ENST00000599547.5:c.503C>A | ||
| NM_000540.2:c.9696C>A , LRG_766t1:c.9696C>A | NP_000531.2:p.Leu3232= | |
| NM_001042723.1:c.9696C>A | NP_001036188.1:p.Leu3232= | |
| XM_006723317.1:c.9696C>A | XP_006723380.1:p.Leu3232= | |
| XM_006723319.1:c.9696C>A | XP_006723382.1:p.Leu3232= | |
| XM_011527204.1:c.9693C>A | XP_011525506.1:p.Leu3231= | |
| XM_011527205.1:c.9696C>A | XP_011525507.1:p.Leu3232= | |
| XM_006723317.2:c.9696C>A | XP_006723380.1:p.Leu3232= | |
| XM_006723319.2:c.9696C>A | XP_006723382.1:p.Leu3232= | |
| XM_011527205.2:c.9696C>A | XP_011525507.1:p.Leu3232= | |
| XR_001753735.1:n.9729C>A | ||
| NM_000540.3:c.9696C>A MANE Select | NP_000531.2:p.Leu3232= | |
| NM_001042723.2:c.9696C>A | NP_001036188.1:p.Leu3232= |