Linked Data
dbSNP Id:
rs12895389
gnomAD v2:
14-95892274-G-A
gnomAD v3:
14-95425937-G-A
gnomAD v4:
14-95425937-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.95425937G>A , CM000676.2:g.95425937G>A | GRCh38 |
| NC_000014.8:g.95892274G>A , CM000676.1:g.95892274G>A | GRCh37 |
| NC_000014.7:g.94962027G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682763.1:c.2727+6142C>T MANE Select | ENSP00000507501.1:n.2727+6142C>T | |
| ENST00000334258.9:c.2727+6142C>T | ENSP00000334308.4:n.2727+6142C>T | |
| ENST00000554873.5:c.1998+6142C>T | ENSP00000452154.1:n.1998+6142C>T | |
| ENST00000557275.5:c.2712+6142C>T | ENSP00000450562.1:n.2712+6142C>T | |
| NM_152592.3:c.2727+6142C>T | NP_689805.3:n.2727+6142C>T | |
| XM_005267376.3:c.2916+6142C>T | XP_005267433.2:n.2916+6142C>T | |
| XM_005267377.2:c.2727+6142C>T | XP_005267434.1:n.2727+6142C>T | |
| XM_006720063.2:c.2727+6142C>T | XP_006720126.1:n.2727+6142C>T | |
| XM_011536513.1:c.2901+6142C>T | XP_011534815.1:n.2901+6142C>T | |
| XM_011536514.1:c.2916+6142C>T | XP_011534816.1:n.2916+6142C>T | |
| XM_011536515.1:c.2751+6142C>T | XP_011534817.1:n.2751+6142C>T | |
| NM_001363692.1:c.2712+6142C>T | NP_001350621.1:n.2712+6142C>T | |
| NM_152592.5:c.2727+6142C>T | NP_689805.3:n.2727+6142C>T | |
| XM_005267377.4:c.2727+6142C>T | XP_005267434.1:n.2727+6142C>T | |
| XM_006720063.4:c.2727+6142C>T | XP_006720126.1:n.2727+6142C>T | |
| XM_011536515.3:c.2751+6142C>T | XP_011534817.1:n.2751+6142C>T | |
| NM_001363692.2:c.2712+6142C>T | NP_001350621.1:n.2712+6142C>T | |
| NM_152592.6:c.2727+6142C>T MANE Select | NP_689805.3:n.2727+6142C>T |