Linked Data
ClinVar Variation Id:
2728976
ClinVar RCV Id:
RCV003593139
dbSNP Id:
rs1027596623
gnomAD v2:
19-39034012-G-A
gnomAD v3:
19-38543372-G-A
gnomAD v4:
19-38543372-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38543372G>A , CM000681.2:g.38543372G>A | GRCh38 |
| NC_000019.9:g.39034012G>A , CM000681.1:g.39034012G>A | GRCh37 |
| NC_000019.8:g.43725852G>A | NCBI36 |
| NG_008866.1:g.114673G>A , LRG_766:g.114673G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000688602.1:c.125G>A | ||
| ENST00000689936.1:c.107G>A | ||
| ENST00000359596.8:c.11715G>A MANE Select | ENSP00000352608.2:p.Gln3905= | |
| ENST00000355481.8:c.11700G>A | ENSP00000347667.3:p.Gln3900= | |
| ENST00000359596.7:c.11715G>A | ENSP00000352608.2:p.Gln3905= | |
| ENST00000360985.7:c.11697G>A | ENSP00000354254.4:p.Gln3899= | |
| ENST00000593322.1:c.324G>A | ||
| ENST00000594335.5:c.5084G>A | ||
| NM_000540.2:c.11715G>A , LRG_766t1:c.11715G>A | NP_000531.2:p.Gln3905= | |
| NM_001042723.1:c.11700G>A | NP_001036188.1:p.Gln3900= | |
| XM_006723317.1:c.11697G>A | XP_006723380.1:p.Gln3899= | |
| XM_006723319.1:c.11682G>A | XP_006723382.1:p.Gln3894= | |
| XM_011527204.1:c.11712G>A | XP_011525506.1:p.Gln3904= | |
| XM_011527205.1:c.11715G>A | XP_011525507.1:p.Gln3905= | |
| XM_006723317.2:c.11697G>A | XP_006723380.1:p.Gln3899= | |
| XM_006723319.2:c.11682G>A | XP_006723382.1:p.Gln3894= | |
| XM_011527205.2:c.11715G>A | XP_011525507.1:p.Gln3905= | |
| NM_000540.3:c.11715G>A MANE Select | NP_000531.2:p.Gln3905= | |
| NM_001042723.2:c.11700G>A | NP_001036188.1:p.Gln3900= |