Linked Data
ClinVar Variation Id:
95047
ClinVar RCV Id:
RCV000081052
RCV000418574
RCV000423556
RCV000425760
RCV000426447
RCV000426681
RCV000434703
RCV000436055
RCV000433226
RCV000441267
RCV000442404
RCV000443206
RCV000700948
RCV002228327
dbSNP Id:
rs398124146
COSMIC:
COSM88749
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3738617G>A , CM000678.2:g.3738617G>A | GRCh38 |
| NC_000016.9:g.3788618G>A , CM000678.1:g.3788618G>A | GRCh37 |
| NC_000016.8:g.3728619G>A | NCBI36 |
| NG_009873.1:g.146504C>T | |
| NG_009873.2:g.147097C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.4336C>T MANE Select | ENSP00000262367.5:p.Arg1446Cys | |
| ENST00000262367.9:c.4336C>T | ENSP00000262367.5:p.Arg1446Cys | |
| ENST00000382070.7:c.4222C>T | ENSP00000371502.3:p.Arg1408Cys | |
| ENST00000570939.2:c.2971C>T | ENSP00000461002.2:p.Arg991Cys | |
| ENST00000574740.1:n.215+1782C>T | ||
| ENST00000576720.1:n.3217+961C>T | ||
| NM_001079846.1:c.4222C>T | NP_001073315.1:p.Arg1408Cys | |
| NM_004380.2:c.4336C>T | NP_004371.2:p.Arg1446Cys | |
| XM_005255124.3:c.4291C>T | XP_005255181.1:p.Arg1431Cys | |
| XM_005255125.3:c.3919C>T | XP_005255182.1:p.Arg1307Cys | |
| XM_006720848.2:c.4133+1782C>T | XP_006720911.1:n.4133+1782C>T | |
| XM_011522380.1:c.4282C>T | XP_011520682.1:p.Arg1428Cys | |
| XM_011522381.1:c.3583C>T | XP_011520683.1:p.Arg1195Cys | |
| XM_005255124.4:c.4291C>T | XP_005255181.1:p.Arg1431Cys | |
| XM_005255125.4:c.3919C>T | XP_005255182.1:p.Arg1307Cys | |
| XM_006720848.3:c.4133+1782C>T | XP_006720911.1:n.4133+1782C>T | |
| XM_011522381.2:c.3583C>T | XP_011520683.1:p.Arg1195Cys | |
| XM_017022944.1:c.4330C>T | XP_016878433.1:p.Arg1444Cys | |
| NM_004380.3:c.4336C>T MANE Select | NP_004371.2:p.Arg1446Cys |