Linked Data
dbSNP Id:
rs755125440
ExAC:
17:56350883 T / G
gnomAD v2:
17-56350883-T-G
gnomAD v4:
17-58273522-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58273522T>G , CM000679.2:g.58273522T>G | GRCh38 |
| NC_000017.10:g.56350883T>G , CM000679.1:g.56350883T>G | GRCh37 |
| NC_000017.9:g.53705882T>G | NCBI36 |
| NG_009629.1:g.12414A>C , LRG_84:g.12414A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000578493.2:n.846A>C | ||
| ENST00000699291.1:c.638A>C | ENSP00000514272.1:n.638A>C | |
| ENST00000699292.1:n.553A>C | ||
| ENST00000225275.4:c.1513A>C MANE Select | ENSP00000225275.3:p.Ile505Leu | |
| ENST00000225275.3:c.1513A>C | ENSP00000225275.3:p.Ile505Leu | |
| NM_000250.1:c.1513A>C , LRG_84t1:c.1513A>C | NP_000241.1:p.Ile505Leu | |
| XM_011524821.1:c.1699A>C | XP_011523123.1:p.Ile567Leu | |
| XM_011524822.1:c.1228A>C | XP_011523124.1:p.Ile410Leu | |
| XM_011524823.1:c.*62A>C | XP_011523125.1:n.*62A>C | |
| NM_000250.2:c.1513A>C MANE Select | NP_000241.1:p.Ile505Leu |