Linked Data
ClinVar Variation Id:
2176777
ClinVar RCV Id:
RCV002610282
dbSNP Id:
rs1299672210
gnomAD v2:
16-3778018-G-A
gnomAD v3:
16-3728017-G-A
gnomAD v4:
16-3728017-G-A
COSMIC:
COSM172758
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3728017G>A , CM000678.2:g.3728017G>A | GRCh38 |
| NC_000016.9:g.3778018G>A , CM000678.1:g.3778018G>A | GRCh37 |
| NC_000016.8:g.3718019G>A | NCBI36 |
| NG_009873.1:g.157104C>T | |
| NG_009873.2:g.157697C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.7030C>T MANE Select | ENSP00000262367.5:p.Arg2344Trp | |
| ENST00000262367.9:c.7030C>T | ENSP00000262367.5:p.Arg2344Trp | |
| ENST00000382070.7:c.6916C>T | ENSP00000371502.3:p.Arg2306Trp | |
| NM_001079846.1:c.6916C>T | NP_001073315.1:p.Arg2306Trp | |
| NM_004380.2:c.7030C>T | NP_004371.2:p.Arg2344Trp | |
| XM_005255124.3:c.6985C>T | XP_005255181.1:p.Arg2329Trp | |
| XM_005255125.3:c.6613C>T | XP_005255182.1:p.Arg2205Trp | |
| XM_006720848.2:c.6769C>T | XP_006720911.1:p.Arg2257Trp | |
| XM_011522380.1:c.6976C>T | XP_011520682.1:p.Arg2326Trp | |
| XM_011522381.1:c.6277C>T | XP_011520683.1:p.Arg2093Trp | |
| XM_005255124.4:c.6985C>T | XP_005255181.1:p.Arg2329Trp | |
| XM_005255125.4:c.6613C>T | XP_005255182.1:p.Arg2205Trp | |
| XM_006720848.3:c.6769C>T | XP_006720911.1:p.Arg2257Trp | |
| XM_011522381.2:c.6277C>T | XP_011520683.1:p.Arg2093Trp | |
| XM_017022944.1:c.7024C>T | XP_016878433.1:p.Arg2342Trp | |
| NM_004380.3:c.7030C>T MANE Select | NP_004371.2:p.Arg2344Trp |