Linked Data
ClinVar Variation Id:
541583
dbSNP Id:
rs759827115
ExAC:
3:38888346 T / C
gnomAD v2:
3-38888346-T-C
gnomAD v3:
3-38846855-T-C
gnomAD v4:
3-38846855-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.38846855T>C , CM000665.2:g.38846855T>C | GRCh38 |
| NC_000003.11:g.38888346T>C , CM000665.1:g.38888346T>C | GRCh37 |
| NC_000003.10:g.38863350T>C | NCBI36 |
| NG_033859.1:g.108707A>G | |
| NG_033859.2:g.210132A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302328.9:c.5215A>G MANE Select | ENSP00000307599.3:p.Ile1739Val | |
| ENST00000668754.1:c.5215A>G | ENSP00000499569.1:p.Ile1739Val | |
| ENST00000675223.1:c.5294A>G | ENSP00000502481.1:n.5294A>G | |
| ENST00000675672.1:c.5269A>G | ENSP00000502446.1:n.5269A>G | |
| ENST00000675892.1:c.5035A>G | ENSP00000502318.1:p.Ile1679Val | |
| ENST00000676045.1:c.5259A>G | ENSP00000501685.1:n.5259A>G | |
| ENST00000676176.1:c.4834A>G | ENSP00000501891.1:p.Ile1612Val | |
| ENST00000302328.7:c.5215A>G | ENSP00000307599.3:p.Ile1739Val | |
| ENST00000456224.7:c.5101A>G | ENSP00000416757.3:p.Ile1701Val | |
| NM_001287223.1:c.5215A>G | NP_001274152.1:p.Ile1739Val | |
| NM_014139.2:c.5215A>G | NP_054858.2:p.Ile1739Val | |
| XM_011533320.1:c.5215A>G | XP_011531622.1:p.Ile1739Val | |
| XM_011533321.1:c.4552A>G | XP_011531623.1:p.Ile1518Val | |
| XM_011533322.1:c.3763A>G | XP_011531624.1:p.Ile1255Val | |
| NM_001349253.1:c.5215A>G | NP_001336182.1:p.Ile1739Val | |
| XM_011533321.2:c.4552A>G | XP_011531623.1:p.Ile1518Val | |
| XM_017005647.1:c.5590A>G | XP_016861136.1:p.Ile1864Val | |
| XM_017005648.1:c.5017A>G | XP_016861137.1:p.Ile1673Val | |
| XM_017005650.1:c.5215A>G | XP_016861139.1:p.Ile1739Val | |
| XM_017005651.1:c.4942A>G | XP_016861140.1:p.Ile1648Val | |
| XM_017005653.1:c.3619A>G | XP_016861142.1:p.Ile1207Val | |
| NM_001349253.2:c.5215A>G MANE Select | NP_001336182.1:p.Ile1739Val | |
| NM_014139.3:c.5215A>G | NP_054858.2:p.Ile1739Val |