Linked Data
ClinVar Variation Id:
324958
ClinVar RCV Id:
RCV002521119
dbSNP Id:
rs766457949
ExAC:
17:71189473 C / T
gnomAD v2:
17-71189473-C-T
gnomAD v3:
17-73193334-C-T
gnomAD v4:
17-73193334-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.73193334C>T , CM000679.2:g.73193334C>T | GRCh38 |
| NC_000017.10:g.71189473C>T , CM000679.1:g.71189473C>T | GRCh37 |
| NC_000017.9:g.68701068C>T | NCBI36 |
| NG_008971.1:g.5301C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299886.9:c.265C>T MANE Select | ENSP00000299886.4:p.Arg89Cys | |
| ENST00000299886.8:c.265C>T | ENSP00000299886.4:p.Arg89Cys | |
| ENST00000438720.7:c.263C>T | ||
| ENST00000582587.2:c.242C>T | ||
| ENST00000618996.4:c.265C>T | ENSP00000479450.1:p.Arg89Cys | |
| NM_018714.2:c.265C>T | NP_061184.1:p.Arg89Cys | |
| NM_018714.3:c.265C>T MANE Select | NP_061184.1:p.Arg89Cys |