Linked Data
ClinVar Variation Id:
2196631
ClinVar RCV Id:
RCV002624340
dbSNP Id:
rs369396210
ExAC:
2:241816980 C / T
gnomAD v2:
2-241816980-C-T
gnomAD v3:
2-240877563-C-T
gnomAD v4:
2-240877563-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240877563C>T , CM000664.2:g.240877563C>T | GRCh38 |
| NC_000002.11:g.241816980C>T , CM000664.1:g.241816980C>T | GRCh37 |
| NC_000002.10:g.241465653C>T | NCBI36 |
| NG_008005.1:g.13819C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.873C>T MANE Select | ENSP00000302620.3:p.His291= | |
| ENST00000307503.3:c.873C>T | ENSP00000302620.3:p.His291= | |
| ENST00000470255.1:n.651C>T | ||
| NM_000030.2:c.873C>T | NP_000021.1:p.His291= | |
| NM_000030.3:c.873C>T MANE Select | NP_000021.1:p.His291= |