Linked Data
dbSNP Id:
rs12413112
gnomAD v2:
10-69651866-G-A
gnomAD v3:
10-67892108-G-A
gnomAD v4:
10-67892108-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.67892108G>A , CM000672.2:g.67892108G>A | GRCh38 |
| NC_000010.10:g.69651866G>A , CM000672.1:g.69651866G>A | GRCh37 |
| NC_000010.9:g.69321872G>A | NCBI36 |
| NG_050664.1:g.12447G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000212015.11:c.942+554G>A MANE Select | ENSP00000212015.6:n.942+554G>A | |
| ENST00000212015.10:c.942+554G>A | ENSP00000212015.6:n.942+554G>A | |
| ENST00000406900.5:c.-93+554G>A | ENSP00000384508.1:n.-93+554G>A | |
| ENST00000432464.5:c.57+554G>A | ENSP00000409208.1:n.57+554G>A | |
| ENST00000473922.1:n.486+554G>A | ||
| NM_001142498.1:c.57+554G>A | NP_001135970.1:n.57+554G>A | |
| NM_001314049.1:c.-93+554G>A | NP_001300978.1:n.-93+554G>A | |
| NM_012238.4:c.942+554G>A | NP_036370.2:n.942+554G>A | |
| XM_006717737.2:c.789+2985G>A | XP_006717800.1:n.789+2985G>A | |
| XM_011539561.1:c.366+554G>A | XP_011537863.1:n.366+554G>A | |
| NM_012238.5:c.942+554G>A MANE Select | NP_036370.2:n.942+554G>A | |
| NM_001142498.2:c.57+554G>A | NP_001135970.1:n.57+554G>A |