Linked Data
ClinVar Variation Id:
2598838
ClinVar RCV Id:
RCV003354302
dbSNP Id:
rs376002860
ExAC:
17:76422600 G / A
gnomAD v2:
17-76422600-G-A
gnomAD v3:
17-78426519-G-A
gnomAD v4:
17-78426519-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.78426519G>A , CM000679.2:g.78426519G>A | GRCh38 |
| NC_000017.10:g.76422600G>A , CM000679.1:g.76422600G>A | GRCh37 |
| NC_000017.9:g.73934195G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389840.7:c.12853C>T MANE Select | ENSP00000374490.6:p.Arg4285Trp | |
| ENST00000389840.6:c.12853C>T | ENSP00000374490.6:p.Arg4285Trp | |
| ENST00000585328.5:c.12838C>T | ENSP00000465516.1:p.Arg4280Trp | |
| ENST00000586052.5:n.6014C>T | ||
| ENST00000586850.1:n.385C>T | ||
| ENST00000590227.5:n.2527C>T | ||
| ENST00000591369.5:c.4455C>T | ||
| ENST00000591647.1:n.202C>T | ||
| NM_173628.3:c.12853C>T | NP_775899.3:p.Arg4285Trp | |
| XM_011525416.1:c.12865C>T | XP_011523718.1:p.Arg4289Trp | |
| XM_011525418.1:c.6232C>T | XP_011523720.1:p.Arg2078Trp | |
| XM_011525416.2:c.12865C>T | XP_011523718.1:p.Arg4289Trp | |
| XM_017025261.2:c.6199C>T | XP_016880750.1:p.Arg2067Trp | |
| XM_024451013.1:c.12721C>T | XP_024306781.1:p.Arg4241Trp | |
| NM_173628.4:c.12853C>T MANE Select | NP_775899.3:p.Arg4285Trp |