Linked Data
dbSNP Id:
rs4974081
gnomAD v2:
3-49070499-C-T
gnomAD v3:
3-49033066-C-T
gnomAD v4:
3-49033066-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49033066C>T , CM000665.2:g.49033066C>T | GRCh38 |
| NC_000003.11:g.49070499C>T , CM000665.1:g.49070499C>T | GRCh37 |
| NC_000003.10:g.49045503C>T | NCBI36 |
| NG_012091.1:g.1377G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411682.2:c.1895+54G>A | ENSP00000412870.2:n.1895+54G>A | |
| ENST00000703871.1:c.1895+54G>A | ENSP00000515516.1:n.1895+54G>A | |
| ENST00000703872.1:c.*727+54G>A | ENSP00000515517.1:n.*727+54G>A | |
| ENST00000703873.1:c.866+54G>A | ENSP00000515518.1:n.866+54G>A | |
| ENST00000703936.1:c.1895+54G>A | ENSP00000515567.1:n.1895+54G>A | |
| ENST00000703937.1:c.1142+54G>A | ENSP00000515568.1:n.1142+54G>A | |
| ENST00000703938.1:c.*50G>A | ENSP00000515569.1:n.*50G>A | |
| ENST00000703939.1:c.*376G>A | ENSP00000515570.1:n.*376G>A | |
| ENST00000703940.1:c.*227G>A | ENSP00000515571.1:n.*227G>A | |
| ENST00000703941.1:c.*264G>A | ENSP00000515572.1:n.*264G>A | |
| ENST00000703942.1:c.1895+54G>A | ENSP00000515573.1:n.1895+54G>A | |
| ENST00000703943.1:c.*588+54G>A | ENSP00000515574.1:n.*588+54G>A | |
| ENST00000395443.7:c.1895+54G>A MANE Select | ENSP00000378830.2:n.1895+54G>A | |
| ENST00000357496.6:c.1895+54G>A | ENSP00000350094.2:n.1895+54G>A | |
| ENST00000395443.6:c.1895+54G>A | ENSP00000378830.2:n.1895+54G>A | |
| ENST00000424300.5:c.1895+54G>A | ENSP00000412890.1:n.1895+54G>A | |
| ENST00000469910.1:n.49+54G>A | ||
| ENST00000477021.1:n.136G>A | ||
| ENST00000489642.5:n.216G>A | ||
| ENST00000498392.1:n.765G>A | ||
| ENST00000498440.5:n.312G>A | ||
| NM_017730.2:c.1895+54G>A | NP_060200.2:n.1895+54G>A | |
| NM_198880.1:c.1895+54G>A | NP_942581.1:n.1895+54G>A | |
| XM_005265248.3:c.1895+54G>A | XP_005265305.1:n.1895+54G>A | |
| XM_006713212.2:c.1895+54G>A | XP_006713275.1:n.1895+54G>A | |
| XM_011533862.1:c.1895+54G>A | XP_011532164.1:n.1895+54G>A | |
| XM_011533863.1:c.1895+54G>A | XP_011532165.1:n.1895+54G>A | |
| NM_001320580.1:c.1895+54G>A | NP_001307509.1:n.1895+54G>A | |
| NM_001320581.1:c.1895+54G>A | NP_001307510.1:n.1895+54G>A | |
| NM_001320582.1:c.1895+54G>A | NP_001307511.1:n.1895+54G>A | |
| NM_001320583.1:c.1895+54G>A | NP_001307512.1:n.1895+54G>A | |
| NM_001320584.1:c.1895+54G>A | NP_001307513.1:n.1895+54G>A | |
| NM_001320585.1:c.1895+54G>A | NP_001307514.1:n.1895+54G>A | |
| NM_017730.3:c.1895+54G>A | NP_060200.2:n.1895+54G>A | |
| NM_198880.2:c.1895+54G>A | NP_942581.1:n.1895+54G>A | |
| NM_198880.3:c.1895+54G>A MANE Select | NP_942581.1:n.1895+54G>A | |
| NM_001320580.2:c.1895+54G>A | NP_001307509.1:n.1895+54G>A | |
| NM_001320581.2:c.1895+54G>A | NP_001307510.1:n.1895+54G>A | |
| NM_001320582.2:c.1895+54G>A | NP_001307511.1:n.1895+54G>A | |
| NM_001320583.2:c.1895+54G>A | NP_001307512.1:n.1895+54G>A | |
| NM_017730.4:c.1895+54G>A | NP_060200.2:n.1895+54G>A |