Linked Data
ClinVar Variation Id:
39466
ClinVar RCV Id:
RCV000032662
RCV000037897
RCV000490529
RCV000618102
RCV000590218
RCV001081302
RCV001107316
RCV003486548
dbSNP Id:
rs117671123
ExAC:
10:121432031 C / T
gnomAD v2:
10-121432031-C-T
gnomAD v3:
10-119672519-C-T
gnomAD v4:
10-119672519-C-T
COSMIC:
COSM3675582
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119672519C>T , CM000672.2:g.119672519C>T | GRCh38 |
| NC_000010.10:g.121432031C>T , CM000672.1:g.121432031C>T | GRCh37 |
| NC_000010.9:g.121422021C>T | NCBI36 |
| NG_016125.1:g.26150C>T , LRG_742:g.26150C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369085.8:c.772C>T MANE Select | ENSP00000358081.4:p.Arg258Trp | |
| ENST00000369085.7:c.772C>T | ENSP00000358081.3:p.Arg258Trp | |
| ENST00000450186.1:c.598C>T | ENSP00000410036.1:p.Arg200Trp | |
| NM_004281.3:c.772C>T , LRG_742t1:c.772C>T | NP_004272.2:p.Arg258Trp | |
| XM_005270287.1:c.772C>T | XP_005270344.1:p.Arg258Trp | |
| XM_005270287.2:c.772C>T | XP_005270344.1:p.Arg258Trp | |
| NM_004281.4:c.772C>T MANE Select | NP_004272.2:p.Arg258Trp |