Linked Data
dbSNP Id:
rs12243039
gnomAD v2:
10-21436222-C-A
gnomAD v3:
10-21147293-C-A
gnomAD v4:
10-21147293-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.21147293C>A , CM000672.2:g.21147293C>A | GRCh38 |
| NC_000010.10:g.21436222C>A , CM000672.1:g.21436222C>A | GRCh37 |
| NC_000010.9:g.21476228C>A | NCBI36 |
| NG_017092.1:g.31895G>T , LRG_411:g.31895G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000675700.1:n.187+25090G>T | ||
| ENST00000675702.1:n.443+25090G>T | ||
| ENST00000675747.1:n.224+25090G>T | ||
| ENST00000417816.2:c.164+25090G>T | ENSP00000393896.2:n.164+25090G>T | |
| NM_001173484.1:c.164+25090G>T | NP_001166955.1:n.164+25090G>T | |
| NM_213569.2:c.164+25090G>T , LRG_411t1:c.164+25090G>T | NP_998734.1:n.164+25090G>T | |
| NM_001173484.2:c.164+25090G>T | NP_001166955.1:n.164+25090G>T | |
| NM_001377322.1:c.164+25090G>T | NP_001364251.1:n.164+25090G>T | |
| NM_001377323.1:c.116+25090G>T | NP_001364252.1:n.116+25090G>T | |
| NM_001377324.1:c.107+25090G>T | NP_001364253.1:n.107+25090G>T | |
| NM_001377325.1:c.98+25090G>T | NP_001364254.1:n.98+25090G>T | |
| NM_001377326.1:c.56+25090G>T | NP_001364255.1:n.56+25090G>T | |
| NM_001377327.1:c.56+25090G>T | NP_001364256.1:n.56+25090G>T | |
| NM_001377328.1:c.56+25090G>T | NP_001364257.1:n.56+25090G>T |