Linked Data
dbSNP Id:
rs441810
gnomAD v2:
21-42698907-A-G
gnomAD v3:
21-41326980-A-G
gnomAD v4:
21-41326980-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.41326980A>G , CM000683.2:g.41326980A>G | GRCh38 |
| NC_000021.8:g.42698907A>G , CM000683.1:g.42698907A>G | GRCh37 |
| NC_000021.7:g.41620777A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000357985.7:c.163+3914A>G MANE Select | ENSP00000350673.2:n.163+3914A>G | |
| ENST00000357985.6:c.163+3914A>G | ENSP00000350673.2:n.163+3914A>G | |
| ENST00000398646.3:c.232+3914A>G | ENSP00000381641.3:n.232+3914A>G | |
| ENST00000398647.7:c.19+10082A>G | ENSP00000381642.3:n.19+10082A>G | |
| ENST00000398652.7:c.280+3914A>G | ENSP00000381646.3:n.280+3914A>G | |
| ENST00000479810.6:n.1764+3914A>G | ||
| ENST00000518236.1:n.205+3914A>G | ||
| NM_058186.3:c.163+3914A>G | NP_478066.3:n.163+3914A>G | |
| NM_206964.1:c.19+10082A>G | NP_996847.1:n.19+10082A>G | |
| XM_011529648.1:c.163+3914A>G | XP_011527950.1:n.163+3914A>G | |
| XM_011529649.1:c.205+3914A>G | XP_011527951.1:n.205+3914A>G | |
| XR_937526.1:n.662+3914A>G | ||
| XM_011529648.2:c.391+3914A>G | XP_011527950.2:n.391+3914A>G | |
| XM_011529649.2:c.205+3914A>G | XP_011527951.1:n.205+3914A>G | |
| XR_937526.2:n.663+3914A>G | ||
| NM_058186.4:c.163+3914A>G MANE Select | NP_478066.3:n.163+3914A>G | |
| NM_206964.2:c.19+10082A>G | NP_996847.1:n.19+10082A>G |