Linked Data
ClinVar Variation Id:
224401
dbSNP Id:
rs200622493
ExAC:
19:39034028 A / G
gnomAD v2:
19-39034028-A-G
gnomAD v3:
19-38543388-A-G
gnomAD v4:
19-38543388-A-G
PubMed:
PMID:24195946
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38543388A>G , CM000681.2:g.38543388A>G | GRCh38 |
| NC_000019.9:g.39034028A>G , CM000681.1:g.39034028A>G | GRCh37 |
| NC_000019.8:g.43725868A>G | NCBI36 |
| NG_008866.1:g.114689A>G , LRG_766:g.114689A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000688602.1:c.141A>G | ||
| ENST00000689936.1:c.123A>G | ||
| ENST00000359596.8:c.11731A>G MANE Select | ENSP00000352608.2:p.Thr3911Ala | |
| ENST00000355481.8:c.11716A>G | ENSP00000347667.3:p.Thr3906Ala | |
| ENST00000359596.7:c.11731A>G | ENSP00000352608.2:p.Thr3911Ala | |
| ENST00000360985.7:c.11713A>G | ENSP00000354254.4:p.Thr3905Ala | |
| ENST00000593322.1:c.340A>G | ||
| ENST00000594335.5:c.5100A>G | ||
| NM_000540.2:c.11731A>G , LRG_766t1:c.11731A>G | NP_000531.2:p.Thr3911Ala | |
| NM_001042723.1:c.11716A>G | NP_001036188.1:p.Thr3906Ala | |
| XM_006723317.1:c.11713A>G | XP_006723380.1:p.Thr3905Ala | |
| XM_006723319.1:c.11698A>G | XP_006723382.1:p.Thr3900Ala | |
| XM_011527204.1:c.11728A>G | XP_011525506.1:p.Thr3910Ala | |
| XM_011527205.1:c.11731A>G | XP_011525507.1:p.Thr3911Ala | |
| XM_006723317.2:c.11713A>G | XP_006723380.1:p.Thr3905Ala | |
| XM_006723319.2:c.11698A>G | XP_006723382.1:p.Thr3900Ala | |
| XM_011527205.2:c.11731A>G | XP_011525507.1:p.Thr3911Ala | |
| NM_000540.3:c.11731A>G MANE Select | NP_000531.2:p.Thr3911Ala | |
| NM_001042723.2:c.11716A>G | NP_001036188.1:p.Thr3906Ala |