Linked Data
dbSNP Id:
rs1479468210
gnomAD v2:
21-45708589-C-G
gnomAD v3:
21-44288706-C-G
gnomAD v4:
21-44288706-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44288706C>G , CM000683.2:g.44288706C>G | GRCh38 |
| NC_000021.8:g.45708589C>G , CM000683.1:g.45708589C>G | GRCh37 |
| NC_000021.7:g.44533017C>G | NCBI36 |
| NG_009556.1:g.7827C>G , LRG_18:g.7827C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291582.6:c.652+248C>G MANE Select | ENSP00000291582.5:n.652+248C>G | |
| ENST00000291582.5:c.652+248C>G | ENSP00000291582.5:n.652+248C>G | |
| ENST00000527919.5:n.1196+248C>G | ||
| ENST00000530812.5:n.1452C>G | ||
| NM_000383.3:c.652+248C>G | NP_000374.1:n.652+248C>G | |
| XM_011529551.1:c.652+248C>G | XP_011527853.1:n.652+248C>G | |
| NM_000383.4:c.652+248C>G MANE Select | NP_000374.1:n.652+248C>G |