Linked Data
ClinVar Variation Id:
98563
ClinVar RCV Id:
RCV000084856
RCV000543628
RCV000850093
RCV000787613
RCV000850094
RCV001075745
RCV002477250
dbSNP Id:
rs61750168
ExAC:
17:7917236 C / T
gnomAD v2:
17-7917236-C-T
gnomAD v3:
17-8013918-C-T
gnomAD v4:
17-8013918-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8013918C>T , CM000679.2:g.8013918C>T | GRCh38 |
| NC_000017.10:g.7917236C>T , CM000679.1:g.7917236C>T | GRCh37 |
| NC_000017.9:g.7857961C>T | NCBI36 |
| NG_009092.1:g.16249C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254854.5:c.2302C>T MANE Select | ENSP00000254854.4:p.Arg768Trp | |
| ENST00000254854.4:c.2302C>T | ENSP00000254854.4:p.Arg768Trp | |
| NM_000180.3:c.2302C>T | NP_000171.1:p.Arg768Trp | |
| XM_011523816.1:c.2302C>T | XP_011522118.1:p.Arg768Trp | |
| NM_000180.4:c.2302C>T MANE Select | NP_000171.1:p.Arg768Trp |