Linked Data
ClinVar Variation Id:
432669
dbSNP Id:
rs1296263427
gnomAD v2:
19-39056010-G-A
gnomAD v3:
19-38565370-G-A
gnomAD v4:
19-38565370-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38565370G>A , CM000681.2:g.38565370G>A | GRCh38 |
| NC_000019.9:g.39056010G>A , CM000681.1:g.39056010G>A | GRCh37 |
| NC_000019.8:g.43747850G>A | NCBI36 |
| NG_008866.1:g.136671G>A , LRG_766:g.136671G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000688602.1:c.1446G>A | ||
| ENST00000689936.1:c.1428G>A | ||
| ENST00000359596.8:c.13036G>A MANE Select | ENSP00000352608.2:p.Ala4346Thr | |
| ENST00000355481.8:c.13021G>A | ENSP00000347667.3:p.Ala4341Thr | |
| ENST00000359596.7:c.13036G>A | ENSP00000352608.2:p.Ala4346Thr | |
| ENST00000360985.7:c.13018G>A | ENSP00000354254.4:p.Ala4340Thr | |
| NM_000540.2:c.13036G>A , LRG_766t1:c.13036G>A | NP_000531.2:p.Ala4346Thr | |
| NM_001042723.1:c.13021G>A | NP_001036188.1:p.Ala4341Thr | |
| XM_006723317.1:c.13018G>A | XP_006723380.1:p.Ala4340Thr | |
| XM_006723319.1:c.13003G>A | XP_006723382.1:p.Ala4335Thr | |
| XM_011527204.1:c.13033G>A | XP_011525506.1:p.Ala4345Thr | |
| XM_011527205.1:c.13036G>A | XP_011525507.1:p.Ala4346Thr | |
| XM_006723317.2:c.13018G>A | XP_006723380.1:p.Ala4340Thr | |
| XM_006723319.2:c.13003G>A | XP_006723382.1:p.Ala4335Thr | |
| XM_011527205.2:c.13036G>A | XP_011525507.1:p.Ala4346Thr | |
| NM_000540.3:c.13036G>A MANE Select | NP_000531.2:p.Ala4346Thr | |
| NM_001042723.2:c.13021G>A | NP_001036188.1:p.Ala4341Thr |