Linked Data
ClinVar Variation Id:
218996
dbSNP Id:
rs777758903
ExAC:
6:49403213 G / A
gnomAD v2:
6-49403213-G-A
gnomAD v3:
6-49435500-G-A
gnomAD v4:
6-49435500-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.49435500G>A , CM000668.2:g.49435500G>A | GRCh38 |
| NC_000006.11:g.49403213G>A , CM000668.1:g.49403213G>A | GRCh37 |
| NC_000006.10:g.49511172G>A | NCBI36 |
| NG_007100.1:g.32640C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000274813.4:c.2080C>T MANE Select | ENSP00000274813.3:p.Arg694Trp | |
| ENST00000274813.3:c.2080C>T | ENSP00000274813.3:p.Arg694Trp | |
| NM_000255.3:c.2080C>T | NP_000246.2:p.Arg694Trp | |
| XM_005249143.2:c.2080C>T | XP_005249200.1:p.Arg694Trp | |
| XM_005249143.3:c.2080C>T | XP_005249200.1:p.Arg694Trp | |
| NM_000255.4:c.2080C>T MANE Select | NP_000246.2:p.Arg694Trp |