Linked Data
gnomAD v4:
3-165069032-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.165069032A>G , CM000665.2:g.165069032A>G | GRCh38 |
| NC_000003.11:g.164786820A>G , CM000665.1:g.164786820A>G | GRCh37 |
| NC_000003.10:g.166269514A>G | NCBI36 |
| NG_017043.1:g.14464T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264382.8:c.373+46T>C MANE Select | ENSP00000264382.3:n.373+46T>C | |
| ENST00000264382.7:c.373+46T>C | ENSP00000264382.3:n.373+46T>C | |
| ENST00000476593.1:c.*248+46T>C | ENSP00000419450.1:n.*248+46T>C | |
| NM_001041.3:c.373+46T>C | NP_001032.2:n.373+46T>C | |
| XM_011513078.1:c.274+46T>C | XP_011511380.1:n.274+46T>C | |
| XM_011513078.2:c.274+46T>C | XP_011511380.1:n.274+46T>C | |
| NM_001041.4:c.373+46T>C MANE Select | NP_001032.2:n.373+46T>C |