Linked Data
ClinVar Variation Id:
1534767
ClinVar RCV Id:
RCV002076915
dbSNP Id:
rs187640248
ExAC:
19:18266990 C / T
gnomAD v2:
19-18266990-C-T
gnomAD v3:
19-18156180-C-T
gnomAD v4:
19-18156180-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18156180C>T , CM000681.2:g.18156180C>T | GRCh38 |
| NC_000019.9:g.18266990C>T , CM000681.1:g.18266990C>T | GRCh37 |
| NC_000019.8:g.18127990C>T | NCBI36 |
| NG_033010.1:g.8003C>T | |
| NG_033010.2:g.8003C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222254.13:c.301C>T MANE Select | ENSP00000222254.6:p.Arg101Cys | |
| ENST00000617130.5:c.301C>T | ENSP00000477864.2:p.Arg101Cys | |
| ENST00000617642.2:c.301C>T | ENSP00000484714.2:p.Arg101Cys | |
| ENST00000222254.12:c.301C>T | ENSP00000222254.6:p.Arg101Cys | |
| ENST00000426902.5:c.301C>T | ENSP00000395636.1:p.Arg101Cys | |
| ENST00000593731.1:c.301C>T | ENSP00000471914.1:p.Arg101Cys | |
| ENST00000617130.4:c.301C>T | ENSP00000477864.1:p.Arg101Cys | |
| ENST00000617642.1:c.301C>T | ENSP00000484714.1:p.Arg101Cys | |
| NM_005027.3:c.301C>T | NP_005018.1:p.Arg101Cys | |
| NR_073517.1:n.841C>T | ||
| NM_005027.4:c.301C>T MANE Select | NP_005018.2:p.Arg101Cys | |
| NR_073517.2:n.856C>T | ||
| NR_162071.1:n.856C>T |