Linked Data
dbSNP Id:
rs778297501
ExAC:
8:23069658 T / C
gnomAD v2:
8-23069658-T-C
gnomAD v3:
8-23212145-T-C
gnomAD v4:
8-23212145-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.23212145T>C , CM000670.2:g.23212145T>C | GRCh38 |
| NC_000008.10:g.23069658T>C , CM000670.1:g.23069658T>C | GRCh37 |
| NC_000008.9:g.23125603T>C | NCBI36 |
| NG_032107.1:g.18023A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221132.8:c.374A>G MANE Select | ENSP00000221132.3:p.His125Arg | |
| ENST00000221132.7:c.374A>G | ENSP00000221132.3:p.His125Arg | |
| ENST00000524158.5:c.-233A>G | ENSP00000428884.1:n.-233A>G | |
| ENST00000613472.1:c.32-9486A>G | ENSP00000480778.1:n.32-9486A>G | |
| NM_003844.3:c.374A>G | NP_003835.3:p.His125Arg | |
| NM_003844.4:c.374A>G MANE Select | NP_003835.3:p.His125Arg |