Linked Data
ClinVar Variation Id:
3067726
ClinVar RCV Id:
RCV003993415
dbSNP Id:
rs765710837
ExAC:
9:136595259 A / G
gnomAD v2:
9-136595259-A-G
gnomAD v3:
9-133730137-A-G
gnomAD v4:
9-133730137-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133730137A>G , CM000671.2:g.133730137A>G | GRCh38 |
| NC_000009.11:g.136595259A>G , CM000671.1:g.136595259A>G | GRCh37 |
| NC_000009.10:g.135585080A>G | NCBI36 |
| NG_008987.1:g.14819T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000439388.6:c.741T>C MANE Select | ENSP00000403084.1:p.Phe247= | |
| ENST00000298628.6:c.741T>C | ENSP00000298628.5:p.Phe247= | |
| ENST00000371867.5:c.474T>C | ENSP00000360933.1:p.Phe158= | |
| ENST00000371872.8:c.741T>C | ENSP00000360938.4:p.Phe247= | |
| ENST00000422262.6:c.-100T>C | ENSP00000415537.3:n.-100T>C | |
| ENST00000427237.6:c.741T>C | ENSP00000394210.2:p.Phe247= | |
| ENST00000439388.5:c.741T>C | ENSP00000403084.1:p.Phe247= | |
| ENST00000616662.4:c.741T>C | ENSP00000484683.1:p.Phe247= | |
| NM_001134707.1:c.741T>C | NP_001128179.1:p.Phe247= | |
| NM_007101.3:c.741T>C | NP_009032.2:p.Phe247= | |
| XM_006716990.2:c.741T>C | XP_006717053.1:p.Phe247= | |
| XM_011518333.1:c.741T>C | XP_011516635.1:p.Phe247= | |
| XR_929726.1:n.908T>C | ||
| XR_929727.1:n.908T>C | ||
| XR_929728.1:n.908T>C | ||
| XM_017014367.1:c.741T>C | XP_016869856.1:p.Phe247= | |
| XM_017014368.1:c.741T>C | XP_016869857.1:p.Phe247= | |
| XR_001746213.1:n.1037T>C | ||
| XR_001746214.1:n.2220T>C | ||
| XR_001746215.1:n.1039T>C | ||
| XR_001746216.1:n.1037T>C | ||
| XR_001746217.1:n.1037T>C | ||
| XR_001746218.1:n.1037T>C | ||
| XR_929726.2:n.908T>C | ||
| NM_001134707.2:c.741T>C MANE Select | NP_001128179.1:p.Phe247= | |
| NM_007101.4:c.741T>C | NP_009032.2:p.Phe247= |