Linked Data
ClinVar Variation Id:
1409970
ClinVar RCV Id:
RCV001916186
dbSNP Id:
rs138622703
ExAC:
17:2579889 C / A
gnomAD v2:
17-2579889-C-A
gnomAD v3:
17-2676595-C-A
gnomAD v4:
17-2676595-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.2676595C>A , CM000679.2:g.2676595C>A | GRCh38 |
| NC_000017.10:g.2579889C>A , CM000679.1:g.2579889C>A | GRCh37 |
| NC_000017.9:g.2526639C>A | NCBI36 |
| NG_009799.1:g.87967C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397195.10:c.991C>A MANE Select | ENSP00000380378.4:p.Leu331Ile | |
| ENST00000571495.2:n.2076C>A | ||
| ENST00000674608.1:c.1045C>A | ENSP00000501976.1:p.Leu349Ile | |
| ENST00000674717.1:c.796C>A | ENSP00000501931.1:p.Leu266Ile | |
| ENST00000675084.1:n.245C>A | ||
| ENST00000675202.1:c.991C>A | ENSP00000502843.1:p.Leu331Ile | |
| ENST00000675331.1:c.991C>A | ENSP00000502031.1:p.Leu331Ile | |
| ENST00000675385.1:n.605C>A | ||
| ENST00000675390.1:c.991C>A | ENSP00000501969.1:p.Leu331Ile | |
| ENST00000675574.1:n.4046C>A | ||
| ENST00000675621.1:c.991C>A | ENSP00000502117.1:p.Leu331Ile | |
| ENST00000675764.1:c.*945C>A | ENSP00000502242.1:n.*945C>A | |
| ENST00000676077.1:c.*309C>A | ENSP00000502507.1:n.*309C>A | |
| ENST00000676098.1:c.991C>A | ENSP00000502735.1:p.Leu331Ile | |
| ENST00000676188.1:c.991C>A | ENSP00000502577.1:p.Leu331Ile | |
| ENST00000676353.1:c.796C>A | ENSP00000502737.1:p.Leu266Ile | |
| ENST00000397193.7:n.799C>A | ||
| ENST00000397195.9:c.991C>A | ENSP00000380378.4:p.Leu331Ile | |
| ENST00000571495.1:n.715C>A | ||
| ENST00000572915.6:n.676+2499C>A | ||
| ENST00000574468.1:c.396+2307C>A | ENSP00000460591.1:n.396+2307C>A | |
| ENST00000574816.5:n.312C>A | ||
| NM_000430.3:c.991C>A | NP_000421.1:p.Leu331Ile | |
| XM_011523901.1:c.1045C>A | XP_011522203.1:p.Leu349Ile | |
| XM_011523902.1:c.1045C>A | XP_011522204.1:p.Leu349Ile | |
| XM_011523903.1:c.1045C>A | XP_011522205.1:p.Leu349Ile | |
| XM_011523901.2:c.1045C>A | XP_011522203.1:p.Leu349Ile | |
| XM_011523902.3:c.1045C>A | XP_011522204.1:p.Leu349Ile | |
| XM_011523903.2:c.1045C>A | XP_011522205.1:p.Leu349Ile | |
| XM_017024701.1:c.991C>A | XP_016880190.1:p.Leu331Ile | |
| XM_017024702.2:c.796C>A | XP_016880191.1:p.Leu266Ile | |
| NM_000430.4:c.991C>A MANE Select | NP_000421.1:p.Leu331Ile |