Linked Data
dbSNP Id:
rs1974145095
gnomAD v4:
19-38580372-G-A
MyVariant Identifiers:
chr19:g.39071012G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38580372G>A , CM000681.2:g.38580372G>A | GRCh38 |
| NC_000019.9:g.39071012G>A , CM000681.1:g.39071012G>A | GRCh37 |
| NC_000019.8:g.43762852G>A | NCBI36 |
| NG_008866.1:g.151673G>A , LRG_766:g.151673G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000593677.2:c.1450G>A | ||
| ENST00000688602.1:c.2847G>A | ||
| ENST00000689936.1:c.2819G>A | ||
| ENST00000359596.8:c.14514G>A MANE Select | ENSP00000352608.2:p.Leu4838= | |
| ENST00000355481.8:c.14499G>A | ENSP00000347667.3:p.Leu4833= | |
| ENST00000359596.7:c.14514G>A | ENSP00000352608.2:p.Leu4838= | |
| ENST00000360985.7:c.14496G>A | ENSP00000354254.4:p.Leu4832= | |
| NM_000540.2:c.14514G>A , LRG_766t1:c.14514G>A | NP_000531.2:p.Leu4838= | |
| NM_001042723.1:c.14499G>A | NP_001036188.1:p.Leu4833= | |
| XM_006723317.1:c.14496G>A | XP_006723380.1:p.Leu4832= | |
| XM_006723319.1:c.14481G>A | XP_006723382.1:p.Leu4827= | |
| XM_011527204.1:c.14511G>A | XP_011525506.1:p.Leu4837= | |
| XM_011527205.1:c.14427G>A | XP_011525507.1:p.Leu4809= | |
| XM_006723317.2:c.14496G>A | XP_006723380.1:p.Leu4832= | |
| XM_006723319.2:c.14481G>A | XP_006723382.1:p.Leu4827= | |
| XM_011527205.2:c.14427G>A | XP_011525507.1:p.Leu4809= | |
| NM_000540.3:c.14514G>A MANE Select | NP_000531.2:p.Leu4838= | |
| NM_001042723.2:c.14499G>A | NP_001036188.1:p.Leu4833= |