Linked Data
dbSNP Id:
rs2086857270
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44711331C>T , CM000677.2:g.44711331C>T | GRCh38 |
| NC_000015.9:g.45003529C>T , CM000677.1:g.45003529C>T | GRCh37 |
| NC_000015.8:g.42790821C>T | NCBI36 |
| NG_012920.1:g.4845C>T | |
| NG_012920.2:g.4855C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011521338.1:c.-565G>A | XP_011519640.1:n.-565G>A | |
| XM_011521339.1:c.-446G>A | XP_011519641.1:n.-446G>A | |
| XM_011521340.1:c.-387G>A | XP_011519642.1:n.-387G>A | |
| XM_011521343.1:c.-649G>A | XP_011519645.1:n.-649G>A | |
| XM_011521345.1:c.-620G>A | XP_011519647.1:n.-620G>A | |
| XM_011521338.3:c.-565G>A | XP_011519640.1:n.-565G>A | |
| XM_011521339.3:c.-446G>A | XP_011519641.1:n.-446G>A | |
| XM_011521340.3:c.-387G>A | XP_011519642.1:n.-387G>A | |
| XM_011521343.3:c.-649G>A | XP_011519645.1:n.-649G>A | |
| XM_011521345.3:c.-620G>A | XP_011519647.1:n.-620G>A | |
| NM_001387260.1:c.-76+1G>A | NP_001374189.1:n.-76+1G>A |