Linked Data
dbSNP Id:
rs11662721
gnomAD v2:
18-19261413-C-T
gnomAD v3:
18-21681452-C-T
gnomAD v4:
18-21681452-C-T
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.21681452C>T , CM000680.2:g.21681452C>T | GRCh38 |
| NC_000018.9:g.19261413C>T , CM000680.1:g.19261413C>T | GRCh37 |
| NC_000018.8:g.17515411C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000289119.7:c.555+2468G>A MANE Select | ENSP00000289119.2:n.555+2468G>A | |
| ENST00000289119.6:c.555+2468G>A | ENSP00000289119.2:n.555+2468G>A | |
| ENST00000577891.1:c.*74+2468G>A | ENSP00000463365.1:n.*74+2468G>A | |
| ENST00000578270.5:c.-471+2468G>A | ENSP00000462578.1:n.-471+2468G>A | |
| ENST00000579875.5:n.485-17222G>A | ||
| ENST00000580981.5:c.509+20864G>A | ENSP00000462935.1:n.509+20864G>A | |
| NM_001308256.1:c.509+20864G>A | NP_001295185.1:n.509+20864G>A | |
| NM_138340.4:c.555+2468G>A | NP_612213.2:n.555+2468G>A | |
| XM_011525847.1:c.555+2468G>A | XP_011524149.1:n.555+2468G>A | |
| XR_243847.1:n.695+2468G>A | ||
| XR_935209.1:n.650-17222G>A | ||
| XR_935210.1:n.650-17222G>A | ||
| XM_011525847.3:c.555+2468G>A | XP_011524149.1:n.555+2468G>A | |
| XM_017025572.1:c.-470-17222G>A | XP_016881061.1:n.-470-17222G>A | |
| XM_017025573.1:c.-471+721G>A | XP_016881062.1:n.-471+721G>A | |
| XM_017025574.1:c.-471+309G>A | XP_016881063.1:n.-471+309G>A | |
| XM_024451094.1:c.-471+2468G>A | XP_024306862.1:n.-471+2468G>A | |
| XR_001753151.2:n.683+2468G>A | ||
| XR_002958165.1:n.683+2468G>A | ||
| XR_935209.3:n.638-17222G>A | ||
| XR_935210.3:n.638-17222G>A | ||
| NM_138340.5:c.555+2468G>A MANE Select | NP_612213.2:n.555+2468G>A | |
| NM_001308256.2:c.509+20864G>A | NP_001295185.1:n.509+20864G>A |