Linked Data
ClinVar Variation Id:
133988
ClinVar RCV Id:
RCV000120657
dbSNP Id:
rs201270230
ExAC:
6:139189275 A / G
gnomAD v2:
6-139189275-A-G
gnomAD v3:
6-138868138-A-G
gnomAD v4:
6-138868138-A-G
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.138868138A>G , CM000668.2:g.138868138A>G | GRCh38 |
| NC_000006.11:g.139189275A>G , CM000668.1:g.139189275A>G | GRCh37 |
| NC_000006.10:g.139230968A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000541398.7:c.1510A>G MANE Select | ENSP00000442307.2:p.Ile504Val | |
| ENST00000367682.6:c.1510A>G | ENSP00000356655.2:p.Ile504Val | |
| ENST00000423192.5:c.1510A>G | ENSP00000387388.1:p.Ile504Val | |
| ENST00000495970.1:n.498A>G | ||
| ENST00000541398.5:c.1510A>G | ENSP00000442307.2:p.Ile504Val | |
| NM_001077706.2:c.1510A>G | NP_001071174.1:p.Ile504Val | |
| NM_001195037.2:c.1510A>G | NP_001181966.1:p.Ile504Val | |
| XM_006715472.2:c.1510A>G | XP_006715535.1:p.Ile504Val | |
| XM_011535795.1:c.1510A>G | XP_011534097.1:p.Ile504Val | |
| XM_011535796.1:c.1561A>G | XP_011534098.1:p.Ile521Val | |
| XM_011535797.1:c.1303A>G | XP_011534099.1:p.Ile435Val | |
| XM_006715472.3:c.1510A>G | XP_006715535.1:p.Ile504Val | |
| XM_011535795.2:c.1510A>G | XP_011534097.1:p.Ile504Val | |
| XM_011535797.2:c.1303A>G | XP_011534099.1:p.Ile435Val | |
| XM_017010828.1:c.1510A>G | XP_016866317.1:p.Ile504Val | |
| XM_017010829.1:c.1417A>G | XP_016866318.1:p.Ile473Val | |
| XM_017010830.1:c.1510A>G | XP_016866319.1:p.Ile504Val | |
| NM_001077706.3:c.1510A>G MANE Select | NP_001071174.1:p.Ile504Val |