Linked Data
ClinVar Variation Id:
2196529
ClinVar RCV Id:
RCV002651103
dbSNP Id:
rs1415659265
gnomAD v2:
5-178421745-G-T
gnomAD v3:
5-178994744-G-T
gnomAD v4:
5-178994744-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.178994744G>T , CM000667.2:g.178994744G>T | GRCh38 |
| NC_000005.9:g.178421745G>T , CM000667.1:g.178421745G>T | GRCh37 |
| NC_000005.8:g.178354351G>T | NCBI36 |
| NG_008105.1:g.5380C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000517717.3:c.201C>A MANE Select | ENSP00000430767.1:p.His67Gln | |
| ENST00000650031.1:c.201C>A | ENSP00000497110.1:p.His67Gln | |
| ENST00000231188.9:c.201C>A | ENSP00000231188.5:p.His67Gln | |
| ENST00000517717.1:c.201C>A | ENSP00000430767.1:p.His67Gln | |
| NM_000843.3:c.201C>A | NP_000834.2:p.His67Gln | |
| NM_000843.4:c.201C>A MANE Select | NP_000834.2:p.His67Gln |