Linked Data
dbSNP Id:
rs147405030
gnomAD v2:
10-63779825-G-A
gnomAD v3:
10-62020066-G-A
gnomAD v4:
10-62020066-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.62020066G>A , CM000672.2:g.62020066G>A | GRCh38 |
| NC_000010.10:g.63779825G>A , CM000672.1:g.63779825G>A | GRCh37 |
| NC_000010.9:g.63449831G>A | NCBI36 |
| NG_030027.1:g.123813G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000279873.12:c.733+19745G>A MANE Select | ENSP00000279873.7:n.733+19745G>A | |
| ENST00000644638.1:c.734-4607G>A | ENSP00000494412.1:n.734-4607G>A | |
| ENST00000681100.1:c.733+19745G>A | ENSP00000506119.1:n.733+19745G>A | |
| ENST00000279873.11:c.733+19745G>A | ENSP00000279873.7:n.733+19745G>A | |
| NM_032199.2:c.733+19745G>A | NP_115575.1:n.733+19745G>A | |
| XM_011540262.1:c.503-30822G>A | XP_011538564.1:n.503-30822G>A | |
| XM_024448230.1:c.166+19745G>A | XP_024303998.1:n.166+19745G>A | |
| NM_032199.3:c.733+19745G>A MANE Select | NP_115575.1:n.733+19745G>A |