Linked Data
gnomAD v4:
8-23191785-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.23191785T>C , CM000670.2:g.23191785T>C | GRCh38 |
| NC_000008.10:g.23049298T>C , CM000670.1:g.23049298T>C | GRCh37 |
| NC_000008.9:g.23105243T>C | NCBI36 |
| NG_032107.1:g.38383A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221132.8:c.1316A>G MANE Select | ENSP00000221132.3:p.His439Arg | |
| ENST00000221132.7:c.1316A>G | ENSP00000221132.3:p.His439Arg | |
| ENST00000613472.1:c.842A>G | ENSP00000480778.1:p.His281Arg | |
| NM_003844.3:c.1316A>G | NP_003835.3:p.His439Arg | |
| NM_003844.4:c.1316A>G MANE Select | NP_003835.3:p.His439Arg |