Linked Data
gnomAD v4:
3-164996752-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.164996752A>G , CM000665.2:g.164996752A>G | GRCh38 |
| NC_000003.11:g.164714540A>G , CM000665.1:g.164714540A>G | GRCh37 |
| NC_000003.10:g.166197234A>G | NCBI36 |
| NG_017043.1:g.86744T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264382.8:c.4561T>C MANE Select | ENSP00000264382.3:p.Phe1521Leu | |
| ENST00000264382.7:c.4561T>C | ENSP00000264382.3:p.Phe1521Leu | |
| NM_001041.3:c.4561T>C | NP_001032.2:p.Phe1521Leu | |
| XM_011513078.1:c.4462T>C | XP_011511380.1:p.Phe1488Leu | |
| XM_011513078.2:c.4462T>C | XP_011511380.1:p.Phe1488Leu | |
| NM_001041.4:c.4561T>C MANE Select | NP_001032.2:p.Phe1521Leu |