Linked Data
gnomAD v4:
1-215675435-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215675435A>C , CM000663.2:g.215675435A>C | GRCh38 |
| NC_000001.10:g.215848777A>C , CM000663.1:g.215848777A>C | GRCh37 |
| NC_000001.9:g.213915400A>C | NCBI36 |
| NG_009497.1:g.752962T>G | |
| NG_009497.2:g.753014T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.12476T>G MANE Select | ENSP00000305941.3:p.Leu4159Arg | |
| ENST00000674083.1:c.12476T>G | ENSP00000501296.1:p.Leu4159Arg | |
| ENST00000307340.7:c.12476T>G | ENSP00000305941.3:p.Leu4159Arg | |
| NM_206933.2:c.12476T>G | NP_996816.2:p.Leu4159Arg | |
| NM_206933.3:c.12476T>G | NP_996816.2:p.Leu4159Arg | |
| NM_206933.4:c.12476T>G MANE Select | NP_996816.3:p.Leu4159Arg |