Linked Data
ClinVar Variation Id:
3038096
ClinVar RCV Id:
RCV003919589
dbSNP Id:
rs140378962
ExAC:
17:76421535 A / G
gnomAD v2:
17-76421535-A-G
gnomAD v3:
17-78425454-A-G
gnomAD v4:
17-78425454-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.78425454A>G , CM000679.2:g.78425454A>G | GRCh38 |
| NC_000017.10:g.76421535A>G , CM000679.1:g.76421535A>G | GRCh37 |
| NC_000017.9:g.73933130A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389840.7:c.13033T>C MANE Select | ENSP00000374490.6:p.Trp4345Arg | |
| ENST00000389840.6:c.13033T>C | ENSP00000374490.6:p.Trp4345Arg | |
| ENST00000585328.5:c.13018T>C | ENSP00000465516.1:p.Trp4340Arg | |
| ENST00000586052.5:n.6194T>C | ||
| ENST00000590227.5:n.2707T>C | ||
| ENST00000591369.5:c.4655T>C | ||
| NM_173628.3:c.13033T>C | NP_775899.3:p.Trp4345Arg | |
| XM_011525416.1:c.13045T>C | XP_011523718.1:p.Trp4349Arg | |
| XM_011525418.1:c.6412T>C | XP_011523720.1:p.Trp2138Arg | |
| XM_011525416.2:c.13045T>C | XP_011523718.1:p.Trp4349Arg | |
| XM_017025261.2:c.6379T>C | XP_016880750.1:p.Trp2127Arg | |
| XM_024451013.1:c.12901T>C | XP_024306781.1:p.Trp4301Arg | |
| NM_173628.4:c.13033T>C MANE Select | NP_775899.3:p.Trp4345Arg |