Linked Data
dbSNP Id:
rs10040363
gnomAD v2:
5-82473645-A-G
gnomAD v3:
5-83177826-A-G
gnomAD v4:
5-83177826-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.83177826A>G , CM000667.2:g.83177826A>G | GRCh38 |
| NC_000005.9:g.82473645A>G , CM000667.1:g.82473645A>G | GRCh37 |
| NC_000005.8:g.82509401A>G | NCBI36 |
| NG_047086.1:g.105418A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000396027.9:c.316-17944A>G MANE Select | ENSP00000379344.4:n.316-17944A>G | |
| ENST00000282268.7:c.316-17944A>G | ENSP00000282268.3:n.316-17944A>G | |
| ENST00000338635.10:c.316-17944A>G | ENSP00000342011.6:n.316-17944A>G | |
| ENST00000396027.8:c.316-17944A>G | ENSP00000379344.4:n.316-17944A>G | |
| ENST00000509268.1:n.328-17944A>G | ||
| ENST00000511817.1:c.316-17944A>G | ENSP00000421491.1:n.316-17944A>G | |
| ENST00000542685.5:n.385-17944A>G | ||
| NM_003401.3:c.316-17944A>G | NP_003392.1:n.316-17944A>G | |
| NM_022406.2:c.316-17944A>G | NP_071801.1:n.316-17944A>G | |
| NM_022550.2:c.316-17944A>G | NP_072044.1:n.316-17944A>G | |
| XM_005248595.1:c.316-17944A>G | XP_005248652.1:n.316-17944A>G | |
| XM_011543626.1:c.316-17944A>G | XP_011541928.1:n.316-17944A>G | |
| XM_011543627.1:c.316-17944A>G | XP_011541929.1:n.316-17944A>G | |
| XM_011543628.1:c.316-17944A>G | XP_011541930.1:n.316-17944A>G | |
| NM_001318012.1:c.316-17944A>G | NP_001304941.1:n.316-17944A>G | |
| NM_001318013.1:c.316-17944A>G | NP_001304942.1:n.316-17944A>G | |
| NM_003401.4:c.316-17944A>G | NP_003392.1:n.316-17944A>G | |
| NM_022406.3:c.316-17944A>G | NP_071801.1:n.316-17944A>G | |
| NM_022550.3:c.316-17944A>G | NP_072044.1:n.316-17944A>G | |
| XM_017009827.2:c.316-17944A>G | XP_016865316.1:n.316-17944A>G | |
| XM_017009828.2:c.316-17944A>G | XP_016865317.1:n.316-17944A>G | |
| XM_017009829.2:c.316-17944A>G | XP_016865318.1:n.316-17944A>G | |
| NM_001318012.2:c.316-17944A>G | NP_001304941.1:n.316-17944A>G | |
| NM_001318013.2:c.316-17944A>G | NP_001304942.1:n.316-17944A>G | |
| NM_003401.5:c.316-17944A>G MANE Select | NP_003392.1:n.316-17944A>G | |
| NM_022406.4:c.316-17944A>G | NP_071801.1:n.316-17944A>G | |
| NM_001318012.3:c.316-17944A>G | NP_001304941.1:n.316-17944A>G | |
| NM_022406.5:c.316-17944A>G | NP_071801.1:n.316-17944A>G | |
| NM_022550.4:c.316-17944A>G | NP_072044.1:n.316-17944A>G |