Linked Data
ClinVar Variation Id:
214151
ClinVar RCV Id:
RCV000199518
dbSNP Id:
rs776023761
ExAC:
9:94060329 T / C
gnomAD v2:
9-94060329-T-C
gnomAD v3:
9-91298047-T-C
gnomAD v4:
9-91298047-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.91298047T>C , CM000671.2:g.91298047T>C | GRCh38 |
| NC_000009.11:g.94060329T>C , CM000671.1:g.94060329T>C | GRCh37 |
| NC_000009.10:g.93100150T>C | NCBI36 |
| NG_008017.1:g.68878A>G , LRG_449:g.68878A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375731.9:c.535A>G MANE Select | ENSP00000364883.5:p.Ile179Val | |
| ENST00000303617.5:c.448A>G | ENSP00000307334.5:p.Ile150Val | |
| ENST00000375731.8:c.535A>G | ENSP00000364883.4:p.Ile179Val | |
| ENST00000478465.5:n.695A>G | ||
| NM_001306190.1:c.448A>G | NP_001293119.1:p.Ile150Val | |
| NM_001698.2:c.535A>G , LRG_449t1:c.535A>G | NP_001689.1:p.Ile179Val | |
| XM_005252066.2:c.565A>G | XP_005252123.1:p.Ile189Val | |
| XM_005252067.3:c.565A>G | XP_005252124.1:p.Ile189Val | |
| XM_005252069.3:c.565A>G | XP_005252126.1:p.Ile189Val | |
| XM_005252072.1:c.535A>G | XP_005252129.1:p.Ile179Val | |
| XM_005252073.2:c.73A>G | XP_005252130.1:p.Ile25Val | |
| XM_006717150.2:c.478A>G | XP_006717213.1:p.Ile160Val | |
| XM_011518800.1:c.565A>G | XP_011517102.1:p.Ile189Val | |
| XM_011518801.1:c.211A>G | XP_011517103.1:p.Ile71Val | |
| XM_011518802.1:c.208A>G | XP_011517104.1:p.Ile70Val | |
| NM_001351431.1:c.208A>G | NP_001338360.1:p.Ile70Val | |
| NM_001351432.1:c.208A>G | NP_001338361.1:p.Ile70Val | |
| NM_001351433.1:c.208A>G | NP_001338362.1:p.Ile70Val | |
| XM_005252066.3:c.565A>G | XP_005252123.1:p.Ile189Val | |
| XM_005252067.4:c.565A>G | XP_005252124.1:p.Ile189Val | |
| XM_005252069.4:c.565A>G | XP_005252126.1:p.Ile189Val | |
| XM_005252072.2:c.535A>G | XP_005252129.1:p.Ile179Val | |
| XM_006717150.3:c.478A>G | XP_006717213.1:p.Ile160Val | |
| XM_011518800.3:c.565A>G | XP_011517102.1:p.Ile189Val | |
| XM_017014849.1:c.535A>G | XP_016870338.1:p.Ile179Val | |
| XR_001746328.2:n.618A>G | ||
| XR_001746329.2:n.570A>G | ||
| NM_001698.3:c.535A>G MANE Select | NP_001689.1:p.Ile179Val | |
| NM_001306190.2:c.448A>G | NP_001293119.1:p.Ile150Val | |
| NM_001351431.2:c.208A>G | NP_001338360.1:p.Ile70Val | |
| NM_001351432.2:c.208A>G | NP_001338361.1:p.Ile70Val | |
| NM_001351433.2:c.208A>G | NP_001338362.1:p.Ile70Val |