Linked Data
dbSNP Id:
rs1342178858
gnomAD v2:
6-12290535-G-A
gnomAD v3:
6-12290302-G-A
gnomAD v4:
6-12290302-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.12290302G>A , CM000668.2:g.12290302G>A | GRCh38 |
| NC_000006.11:g.12290535G>A , CM000668.1:g.12290535G>A | GRCh37 |
| NC_000006.10:g.12398521G>A | NCBI36 |
| NG_016196.1:g.5007G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_001168319.1:c.-328G>A | NP_001161791.1:n.-328G>A | |
| NM_001955.4:c.-328G>A | NP_001946.3:n.-328G>A | |
| XM_011514330.1:c.-1-327G>A | XP_011512632.1:n.-1-327G>A | |
| XM_011514331.1:c.-1-327G>A | XP_011512633.1:n.-1-327G>A | |
| XM_011514332.1:c.-1-327G>A | XP_011512634.1:n.-1-327G>A | |
| XM_011514330.2:c.-1-327G>A | XP_011512632.1:n.-1-327G>A | |
| XM_011514331.3:c.-1-327G>A | XP_011512633.1:n.-1-327G>A | |
| XM_011514332.2:c.-1-327G>A | XP_011512634.1:n.-1-327G>A | |
| XM_017010331.1:c.-2+179G>A | XP_016865820.1:n.-2+179G>A |