Linked Data
ClinVar Variation Id:
376388
ClinVar RCV Id:
RCV000419312
RCV000422245
RCV000423470
RCV000428778
RCV000430036
RCV000431113
RCV000432952
RCV000438307
RCV000439458
RCV000440692
RCV000442935
dbSNP Id:
rs398124146
COSMIC:
COSM254625
PubMed:
PMID:26619011
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3738617G>C , CM000678.2:g.3738617G>C | GRCh38 |
| NC_000016.9:g.3788618G>C , CM000678.1:g.3788618G>C | GRCh37 |
| NC_000016.8:g.3728619G>C | NCBI36 |
| NG_009873.1:g.146504C>G | |
| NG_009873.2:g.147097C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.4336C>G MANE Select | ENSP00000262367.5:p.Arg1446Gly | |
| ENST00000262367.9:c.4336C>G | ENSP00000262367.5:p.Arg1446Gly | |
| ENST00000382070.7:c.4222C>G | ENSP00000371502.3:p.Arg1408Gly | |
| ENST00000570939.2:c.2971C>G | ENSP00000461002.2:p.Arg991Gly | |
| ENST00000574740.1:n.215+1782C>G | ||
| ENST00000576720.1:n.3217+961C>G | ||
| NM_001079846.1:c.4222C>G | NP_001073315.1:p.Arg1408Gly | |
| NM_004380.2:c.4336C>G | NP_004371.2:p.Arg1446Gly | |
| XM_005255124.3:c.4291C>G | XP_005255181.1:p.Arg1431Gly | |
| XM_005255125.3:c.3919C>G | XP_005255182.1:p.Arg1307Gly | |
| XM_006720848.2:c.4133+1782C>G | XP_006720911.1:n.4133+1782C>G | |
| XM_011522380.1:c.4282C>G | XP_011520682.1:p.Arg1428Gly | |
| XM_011522381.1:c.3583C>G | XP_011520683.1:p.Arg1195Gly | |
| XM_005255124.4:c.4291C>G | XP_005255181.1:p.Arg1431Gly | |
| XM_005255125.4:c.3919C>G | XP_005255182.1:p.Arg1307Gly | |
| XM_006720848.3:c.4133+1782C>G | XP_006720911.1:n.4133+1782C>G | |
| XM_011522381.2:c.3583C>G | XP_011520683.1:p.Arg1195Gly | |
| XM_017022944.1:c.4330C>G | XP_016878433.1:p.Arg1444Gly | |
| NM_004380.3:c.4336C>G MANE Select | NP_004371.2:p.Arg1446Gly |