Linked Data
dbSNP Id:
rs1148374
gnomAD v2:
18-25650282-T-A
gnomAD v3:
18-28070318-T-A
gnomAD v4:
18-28070318-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.28070318T>A , CM000680.2:g.28070318T>A | GRCh38 |
| NC_000018.9:g.25650282T>A , CM000680.1:g.25650282T>A | GRCh37 |
| NC_000018.8:g.23904280T>A | NCBI36 |
| NG_011959.1:g.112164A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000269141.8:c.173-56409A>T MANE Select | ENSP00000269141.3:n.173-56409A>T | |
| ENST00000413878.2:c.-83-56409A>T | ENSP00000414269.2:n.-83-56409A>T | |
| ENST00000430882.6:c.-84+26745A>T | ENSP00000412120.2:n.-84+26745A>T | |
| ENST00000675708.1:c.-83-56409A>T | ENSP00000501654.1:n.-83-56409A>T | |
| ENST00000676445.1:c.-83-56409A>T | ENSP00000502206.1:n.-83-56409A>T | |
| ENST00000269141.7:c.173-56409A>T | ENSP00000269141.3:n.173-56409A>T | |
| ENST00000413878.1:c.-83-56409A>T | ENSP00000414269.1:n.-83-56409A>T | |
| ENST00000430882.5:c.-84+26745A>T | ENSP00000412120.1:n.-84+26745A>T | |
| NM_001792.3:c.173-56409A>T | NP_001783.2:n.173-56409A>T | |
| NM_001792.4:c.173-56409A>T | NP_001783.2:n.173-56409A>T | |
| XM_005258181.2:c.119-56409A>T | XP_005258238.1:n.119-56409A>T | |
| XM_011525787.1:c.119-56409A>T | XP_011524089.1:n.119-56409A>T | |
| XM_011525788.1:c.-83-56409A>T | XP_011524090.1:n.-83-56409A>T | |
| XM_017025514.2:c.173-56409A>T | XP_016881003.1:n.173-56409A>T | |
| NM_001792.5:c.173-56409A>T MANE Select | NP_001783.2:n.173-56409A>T |