Linked Data
ClinVar Variation Id:
1168170
ClinVar RCV Id:
RCV001518204
dbSNP Id:
rs3087456
gnomAD v2:
16-10970902-G-A
gnomAD v3:
16-10877045-G-A
gnomAD v4:
16-10877045-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.10877045G>A , CM000678.2:g.10877045G>A | GRCh38 |
| NC_000016.9:g.10970902G>A , CM000678.1:g.10970902G>A | GRCh37 |
| NC_000016.8:g.10878403G>A | NCBI36 |
| NG_009628.1:g.4848G>A , LRG_49:g.4848G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000636238.1:c.-21+10726G>A | ENSP00000490205.1:n.-21+10726G>A | |
| ENST00000637439.1:c.283+10473G>A | ENSP00000489907.1:n.283+10473G>A | |
| XM_006720880.2:c.346+10473G>A | XP_006720943.2:n.346+10473G>A | |
| XM_011522484.1:c.346+10473G>A | XP_011520786.1:n.346+10473G>A | |
| XM_011522485.1:c.346+10473G>A | XP_011520787.1:n.346+10473G>A | |
| XM_011522486.1:c.346+10473G>A | XP_011520788.1:n.346+10473G>A | |
| XM_011522487.1:c.247+10473G>A | XP_011520789.1:n.247+10473G>A | |
| XM_011522489.1:c.247+10473G>A | XP_011520791.1:n.247+10473G>A | |
| XM_011522491.1:c.346+10473G>A | XP_011520793.1:n.346+10473G>A | |
| XM_011522494.1:c.-21+10726G>A | XP_011520796.1:n.-21+10726G>A | |
| XR_932841.1:n.361+10473G>A | ||
| XR_932842.1:n.361+10473G>A | ||
| XR_932843.1:n.361+10473G>A | ||
| XR_932846.1:n.361+10473G>A | ||
| XR_932847.1:n.361+10473G>A | ||
| XR_933067.1:n.1162+11270C>T | ||
| XR_933068.1:n.1162+11270C>T | ||
| XM_006720880.3:c.346+10473G>A | XP_006720943.2:n.346+10473G>A | |
| XM_011522484.3:c.346+10473G>A | XP_011520786.1:n.346+10473G>A | |
| XM_011522485.2:c.346+10473G>A | XP_011520787.1:n.346+10473G>A | |
| XM_011522486.2:c.346+10473G>A | XP_011520788.1:n.346+10473G>A | |
| XM_011522487.2:c.247+10473G>A | XP_011520789.1:n.247+10473G>A | |
| XM_011522489.2:c.247+10473G>A | XP_011520791.1:n.247+10473G>A | |
| XM_011522491.2:c.346+10473G>A | XP_011520793.1:n.346+10473G>A | |
| XM_011522494.2:c.-21+10726G>A | XP_011520796.1:n.-21+10726G>A | |
| XR_001751904.1:n.365+10473G>A | ||
| XR_002957860.1:n.1246+11270C>T | ||
| XR_002957861.1:n.1246+11270C>T | ||
| XR_002957863.1:n.1442+5974C>T | ||
| XR_932841.3:n.363+10473G>A | ||
| XR_932842.2:n.363+10473G>A | ||
| XR_932846.3:n.365+10473G>A | ||
| XR_932847.3:n.365+10473G>A |