Linked Data
ClinVar Variation Id:
3073642
ClinVar RCV Id:
RCV004016648
dbSNP Id:
rs1467742744
gnomAD v2:
19-39075652-G-A
gnomAD v3:
19-38585012-G-A
gnomAD v4:
19-38585012-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38585012G>A , CM000681.2:g.38585012G>A | GRCh38 |
| NC_000019.9:g.39075652G>A , CM000681.1:g.39075652G>A | GRCh37 |
| NC_000019.8:g.43767492G>A | NCBI36 |
| NG_008866.1:g.156313G>A , LRG_766:g.156313G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593677.2:c.1652G>A | ||
| ENST00000688602.1:c.3049G>A | ||
| ENST00000689936.1:c.3021G>A | ||
| ENST00000692547.1:n.109G>A | ||
| ENST00000359596.8:c.14716G>A MANE Select | ENSP00000352608.2:p.Ala4906Thr | |
| ENST00000355481.8:c.14701G>A | ENSP00000347667.3:p.Ala4901Thr | |
| ENST00000359596.7:c.14716G>A | ENSP00000352608.2:p.Ala4906Thr | |
| ENST00000360985.7:c.14698G>A | ENSP00000354254.4:p.Ala4900Thr | |
| NM_000540.2:c.14716G>A , LRG_766t1:c.14716G>A | NP_000531.2:p.Ala4906Thr | |
| NM_001042723.1:c.14701G>A | NP_001036188.1:p.Ala4901Thr | |
| XM_006723317.1:c.14698G>A | XP_006723380.1:p.Ala4900Thr | |
| XM_006723319.1:c.14683G>A | XP_006723382.1:p.Ala4895Thr | |
| XM_011527204.1:c.14713G>A | XP_011525506.1:p.Ala4905Thr | |
| XM_011527205.1:c.14629G>A | XP_011525507.1:p.Ala4877Thr | |
| XM_006723317.2:c.14698G>A | XP_006723380.1:p.Ala4900Thr | |
| XM_006723319.2:c.14683G>A | XP_006723382.1:p.Ala4895Thr | |
| XM_011527205.2:c.14629G>A | XP_011525507.1:p.Ala4877Thr | |
| NM_000540.3:c.14716G>A MANE Select | NP_000531.2:p.Ala4906Thr | |
| NM_001042723.2:c.14701G>A | NP_001036188.1:p.Ala4901Thr |