Linked Data
dbSNP Id:
rs1226161297
gnomAD v2:
17-2569375-A-G
gnomAD v3:
17-2666081-A-G
gnomAD v4:
17-2666081-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.2666081A>G , CM000679.2:g.2666081A>G | GRCh38 |
| NC_000017.10:g.2569375A>G , CM000679.1:g.2569375A>G | GRCh37 |
| NC_000017.9:g.2516125A>G | NCBI36 |
| NG_009799.1:g.77453A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397195.10:c.183A>G MANE Select | ENSP00000380378.4:p.Leu61= | |
| ENST00000674608.1:c.237A>G | ENSP00000501976.1:p.Leu79= | |
| ENST00000674717.1:c.-3-911A>G | ENSP00000501931.1:n.-3-911A>G | |
| ENST00000675202.1:c.183A>G | ENSP00000502843.1:p.Leu61= | |
| ENST00000675331.1:c.183A>G | ENSP00000502031.1:p.Leu61= | |
| ENST00000675390.1:c.183A>G | ENSP00000501969.1:p.Leu61= | |
| ENST00000675430.1:n.410A>G | ||
| ENST00000675621.1:c.183A>G | ENSP00000502117.1:p.Leu61= | |
| ENST00000675764.1:c.*137A>G | ENSP00000502242.1:n.*137A>G | |
| ENST00000676077.1:c.-13A>G | ENSP00000502507.1:n.-13A>G | |
| ENST00000676098.1:c.183A>G | ENSP00000502735.1:p.Leu61= | |
| ENST00000676188.1:c.183A>G | ENSP00000502577.1:p.Leu61= | |
| ENST00000676201.1:n.337A>G | ||
| ENST00000676353.1:c.-13A>G | ENSP00000502737.1:n.-13A>G | |
| ENST00000676456.1:n.288A>G | ||
| ENST00000397195.9:c.183A>G | ENSP00000380378.4:p.Leu61= | |
| ENST00000570400.1:c.*53A>G | ENSP00000460258.1:n.*53A>G | |
| ENST00000572915.6:n.273-911A>G | ||
| ENST00000574816.5:n.31-10233A>G | ||
| ENST00000575477.5:n.685A>G | ||
| ENST00000576586.5:c.183A>G | ENSP00000461087.1:p.Leu61= | |
| ENST00000609078.1:n.142A>G | ||
| NM_000430.3:c.183A>G | NP_000421.1:p.Leu61= | |
| XM_011523901.1:c.237A>G | XP_011522203.1:p.Leu79= | |
| XM_011523902.1:c.237A>G | XP_011522204.1:p.Leu79= | |
| XM_011523903.1:c.237A>G | XP_011522205.1:p.Leu79= | |
| XM_011523904.1:c.237A>G | XP_011522206.1:p.Leu79= | |
| XM_011523901.2:c.237A>G | XP_011522203.1:p.Leu79= | |
| XM_011523902.3:c.237A>G | XP_011522204.1:p.Leu79= | |
| XM_011523903.2:c.237A>G | XP_011522205.1:p.Leu79= | |
| XM_017024701.1:c.183A>G | XP_016880190.1:p.Leu61= | |
| XM_017024702.2:c.-13A>G | XP_016880191.1:n.-13A>G | |
| NM_000430.4:c.183A>G MANE Select | NP_000421.1:p.Leu61= |