Linked Data
dbSNP Id:
rs899102293
gnomAD v2:
4-39448640-T-G
gnomAD v3:
4-39447020-T-G
gnomAD v4:
4-39447020-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.39447020T>G , CM000666.2:g.39447020T>G | GRCh38 |
| NC_000004.11:g.39448640T>G , CM000666.1:g.39448640T>G | GRCh37 |
| NC_000004.10:g.39125035T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257408.5:c.2294T>G MANE Select | ENSP00000257408.4:p.Leu765Arg | |
| ENST00000257408.4:c.2294T>G | ENSP00000257408.4:p.Leu765Arg | |
| NM_175737.3:c.2294T>G | NP_783864.1:p.Leu765Arg | |
| XM_005262644.1:c.2267T>G | XP_005262701.1:p.Leu756Arg | |
| NM_175737.4:c.2294T>G MANE Select | NP_783864.1:p.Leu765Arg |