Linked Data
dbSNP Id:
rs6439886
gnomAD v2:
3-139682495-A-G
gnomAD v3:
3-139963653-A-G
gnomAD v4:
3-139963653-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.139963653A>G , CM000665.2:g.139963653A>G | GRCh38 |
| NC_000003.11:g.139682495A>G , CM000665.1:g.139682495A>G | GRCh37 |
| NC_000003.10:g.141165185A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000458420.7:c.109+28170A>G MANE Select | ENSP00000402460.2:n.109+28170A>G | |
| ENST00000511524.1:n.297+28170A>G | ||
| NM_022131.2:c.109+28170A>G | NP_071414.2:n.109+28170A>G | |
| NM_022131.3:c.109+28170A>G MANE Select | NP_071414.2:n.109+28170A>G |