Linked Data
ClinVar Variation Id:
782388
ClinVar RCV Id:
RCV000963772
dbSNP Id:
rs62618747
ExAC:
1:153029153 G / T
gnomAD v2:
1-153029153-G-T
gnomAD v3:
1-153056677-G-T
gnomAD v4:
1-153056677-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.153056677G>T , CM000663.2:g.153056677G>T | GRCh38 |
| NC_000001.10:g.153029153G>T , CM000663.1:g.153029153G>T | GRCh37 |
| NC_000001.9:g.151295777G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392653.3:c.59C>A MANE Select | ENSP00000376423.2:p.Thr20Lys | |
| ENST00000392653.2:c.59C>A | ENSP00000376423.2:p.Thr20Lys | |
| NM_005988.2:c.59C>A | NP_005979.1:p.Thr20Lys | |
| NM_005988.3:c.59C>A MANE Select | NP_005979.1:p.Thr20Lys |