Linked Data
gnomAD v4:
6-123218726-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.123218726A>G , CM000668.2:g.123218726A>G | GRCh38 |
| NC_000006.11:g.123539871A>G , CM000668.1:g.123539871A>G | GRCh37 |
| NC_000006.10:g.123581570A>G | NCBI36 |
| NG_030438.1:g.423368T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334268.9:c.2065T>C MANE Select | ENSP00000333984.5:p.Phe689Leu | |
| ENST00000334268.8:c.2065T>C | ENSP00000333984.5:p.Phe689Leu | |
| NM_006073.3:c.2065T>C | NP_006064.2:p.Phe689Leu | |
| XM_011535382.1:c.1984T>C | XP_011533684.1:p.Phe662Leu | |
| NM_006073.4:c.2065T>C MANE Select | NP_006064.2:p.Phe689Leu |