Linked Data
gnomAD v4:
9-99221591-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.99221591G>C , CM000671.2:g.99221591G>C | GRCh38 |
| NC_000009.11:g.101983873G>C , CM000671.1:g.101983873G>C | GRCh37 |
| NC_000009.10:g.101023694G>C | NCBI36 |
| NG_008928.1:g.5374C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000476832.2:c.304C>G MANE Select | ENSP00000417764.1:p.Leu102Val | |
| ENST00000238477.5:c.304C>G | ENSP00000432675.2:p.Leu102Val | |
| ENST00000476832.1:c.304C>G | ENSP00000417764.1:p.Leu102Val | |
| NM_033087.3:c.304C>G | NP_149078.1:p.Leu102Val | |
| NR_024532.1:n.374C>G | ||
| NM_033087.4:c.304C>G MANE Select | NP_149078.1:p.Leu102Val | |
| NR_024532.2:n.352C>G |