Linked Data
ClinVar Variation Id:
2378682
ClinVar RCV Id:
RCV002662166
dbSNP Id:
rs147396192
ExAC:
17:76421564 A / G
gnomAD v2:
17-76421564-A-G
gnomAD v3:
17-78425483-A-G
gnomAD v4:
17-78425483-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.78425483A>G , CM000679.2:g.78425483A>G | GRCh38 |
| NC_000017.10:g.76421564A>G , CM000679.1:g.76421564A>G | GRCh37 |
| NC_000017.9:g.73933159A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389840.7:c.13004T>C MANE Select | ENSP00000374490.6:p.Ile4335Thr | |
| ENST00000389840.6:c.13004T>C | ENSP00000374490.6:p.Ile4335Thr | |
| ENST00000585328.5:c.12989T>C | ENSP00000465516.1:p.Ile4330Thr | |
| ENST00000586052.5:n.6165T>C | ||
| ENST00000590227.5:n.2678T>C | ||
| ENST00000591369.5:c.4626T>C | ||
| NM_173628.3:c.13004T>C | NP_775899.3:p.Ile4335Thr | |
| XM_011525416.1:c.13016T>C | XP_011523718.1:p.Ile4339Thr | |
| XM_011525418.1:c.6383T>C | XP_011523720.1:p.Ile2128Thr | |
| XM_011525416.2:c.13016T>C | XP_011523718.1:p.Ile4339Thr | |
| XM_017025261.2:c.6350T>C | XP_016880750.1:p.Ile2117Thr | |
| XM_024451013.1:c.12872T>C | XP_024306781.1:p.Ile4291Thr | |
| NM_173628.4:c.13004T>C MANE Select | NP_775899.3:p.Ile4335Thr |