Linked Data
dbSNP Id:
rs948121208
gnomAD v2:
20-3063511-C-T
gnomAD v3:
20-3082865-C-T
gnomAD v4:
20-3082865-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3082865C>T , CM000682.2:g.3082865C>T | GRCh38 |
| NC_000020.10:g.3063511C>T , CM000682.1:g.3063511C>T | GRCh37 |
| NC_000020.9:g.3011511C>T | NCBI36 |
| NG_008663.1:g.6860G>A , LRG_715:g.6860G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380293.3:c.323-63G>A MANE Select | ENSP00000369647.3:n.323-63G>A | |
| NM_000490.4:c.323-63G>A , LRG_715t1:c.323-63G>A | NP_000481.2:n.323-63G>A | |
| XM_011529267.1:c.323-63G>A | XP_011527569.1:n.323-63G>A | |
| XM_011529267.2:c.323-63G>A | XP_011527569.1:n.323-63G>A | |
| NM_000490.5:c.323-63G>A MANE Select | NP_000481.2:n.323-63G>A |