Linked Data
dbSNP Id:
rs3783006
gnomAD v2:
13-99111209-G-C
gnomAD v3:
13-98458955-G-C
gnomAD v4:
13-98458955-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.98458955G>C , CM000675.2:g.98458955G>C | GRCh38 |
| NC_000013.10:g.99111209G>C , CM000675.1:g.99111209G>C | GRCh37 |
| NC_000013.9:g.97909210G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000539966.6:c.1122+1417C>G MANE Select | ENSP00000442539.2:n.1122+1417C>G | |
| ENST00000376547.7:c.1158+1417C>G | ENSP00000365730.3:n.1158+1417C>G | |
| ENST00000376554.8:c.457-1651C>G | ENSP00000365737.4:n.457-1651C>G | |
| ENST00000397517.6:c.1065+1417C>G | ENSP00000380651.3:n.1065+1417C>G | |
| ENST00000418038.5:c.288+1417C>G | ENSP00000402810.1:n.288+1417C>G | |
| ENST00000444574.1:c.874+1417C>G | ||
| ENST00000539966.5:c.1122+1417C>G | ENSP00000442539.2:n.1122+1417C>G | |
| NM_001032296.3:c.1122+1417C>G | NP_001027467.2:n.1122+1417C>G | |
| NM_001286649.1:c.1065+1417C>G | NP_001273578.1:n.1065+1417C>G | |
| NM_003576.4:c.1158+1417C>G | NP_003567.2:n.1158+1417C>G | |
| XM_005254078.3:c.828+1417C>G | XP_005254135.1:n.828+1417C>G | |
| XM_005254079.3:c.828+1417C>G | XP_005254136.1:n.828+1417C>G | |
| XM_005254079.5:c.828+1417C>G | XP_005254136.1:n.828+1417C>G | |
| XM_017020794.2:c.1380+1417C>G | XP_016876283.1:n.1380+1417C>G | |
| XM_024449426.1:c.828+1417C>G | XP_024305194.1:n.828+1417C>G | |
| NM_001032296.4:c.1122+1417C>G MANE Select | NP_001027467.2:n.1122+1417C>G | |
| NM_001286649.2:c.1065+1417C>G | NP_001273578.1:n.1065+1417C>G | |
| NM_003576.5:c.1158+1417C>G | NP_003567.2:n.1158+1417C>G |