Linked Data
dbSNP Id:
rs3800539
gnomAD v2:
6-55141019-G-A
gnomAD v3:
6-55276221-G-A
gnomAD v4:
6-55276221-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.55276221G>A , CM000668.2:g.55276221G>A | GRCh38 |
| NC_000006.11:g.55141019G>A , CM000668.1:g.55141019G>A | GRCh37 |
| NC_000006.10:g.55248978G>A | NCBI36 |
| NG_012447.1:g.106949G>A | |
| NG_012447.2:g.174762G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370862.4:c.763-1159G>A MANE Select | ENSP00000359899.3:n.763-1159G>A | |
| ENST00000370862.3:c.763-1159G>A | ENSP00000359899.3:n.763-1159G>A | |
| ENST00000615358.4:c.763-1159G>A | ENSP00000477548.1:n.763-1159G>A | |
| NM_001526.3:c.763-1159G>A | NP_001517.2:n.763-1159G>A | |
| XM_011514542.1:c.568-1159G>A | XP_011512844.1:n.568-1159G>A | |
| NM_001526.4:c.763-1159G>A | NP_001517.2:n.763-1159G>A | |
| XM_017010798.1:c.763-1159G>A | XP_016866287.1:n.763-1159G>A | |
| NM_001384272.1:c.763-1159G>A MANE Select | NP_001371201.1:n.763-1159G>A | |
| NM_001526.5:c.763-1159G>A | NP_001517.2:n.763-1159G>A |