Linked Data
dbSNP Id:
rs759870637
ExAC:
19:39068669 C / G
gnomAD v2:
19-39068669-C-G
gnomAD v4:
19-38578029-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38578029C>G , CM000681.2:g.38578029C>G | GRCh38 |
| NC_000019.9:g.39068669C>G , CM000681.1:g.39068669C>G | GRCh37 |
| NC_000019.8:g.43760509C>G | NCBI36 |
| NG_008866.1:g.149330C>G , LRG_766:g.149330C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593677.2:c.1220C>G | ||
| ENST00000688602.1:c.2617C>G | ||
| ENST00000689936.1:c.2589C>G | ||
| ENST00000359596.8:c.14284C>G MANE Select | ENSP00000352608.2:p.Pro4762Ala | |
| ENST00000355481.8:c.14269C>G | ENSP00000347667.3:p.Pro4757Ala | |
| ENST00000359596.7:c.14284C>G | ENSP00000352608.2:p.Pro4762Ala | |
| ENST00000360985.7:c.14266C>G | ENSP00000354254.4:p.Pro4756Ala | |
| NM_000540.2:c.14284C>G , LRG_766t1:c.14284C>G | NP_000531.2:p.Pro4762Ala | |
| NM_001042723.1:c.14269C>G | NP_001036188.1:p.Pro4757Ala | |
| XM_006723317.1:c.14266C>G | XP_006723380.1:p.Pro4756Ala | |
| XM_006723319.1:c.14251C>G | XP_006723382.1:p.Pro4751Ala | |
| XM_011527204.1:c.14281C>G | XP_011525506.1:p.Pro4761Ala | |
| XM_011527205.1:c.14197C>G | XP_011525507.1:p.Pro4733Ala | |
| XM_006723317.2:c.14266C>G | XP_006723380.1:p.Pro4756Ala | |
| XM_006723319.2:c.14251C>G | XP_006723382.1:p.Pro4751Ala | |
| XM_011527205.2:c.14197C>G | XP_011525507.1:p.Pro4733Ala | |
| NM_000540.3:c.14284C>G MANE Select | NP_000531.2:p.Pro4762Ala | |
| NM_001042723.2:c.14269C>G | NP_001036188.1:p.Pro4757Ala |