Linked Data
dbSNP Id:
rs2606345
gnomAD v2:
15-75017176-C-A
gnomAD v3:
15-74724835-C-A
gnomAD v4:
15-74724835-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74724835C>A , CM000677.2:g.74724835C>A | GRCh38 |
| NC_000015.9:g.75017176C>A , CM000677.1:g.75017176C>A | GRCh37 |
| NC_000015.8:g.72804229C>A | NCBI36 |
| NG_008431.1:g.7294C>A | |
| NG_008431.2:g.7294C>A | |
| NG_061374.1:g.5694G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379727.8:c.-30+606G>T MANE Select | ENSP00000369050.3:n.-30+606G>T | |
| ENST00000379727.7:c.-30+606G>T | ENSP00000369050.3:n.-30+606G>T | |
| ENST00000395048.6:c.-27+606G>T | ENSP00000378488.2:n.-27+606G>T | |
| ENST00000395049.8:c.-30+606G>T | ENSP00000378489.4:n.-30+606G>T | |
| ENST00000562201.5:c.-27+606G>T | ENSP00000455340.1:n.-27+606G>T | |
| ENST00000564596.5:c.-221+606G>T | ENSP00000457668.1:n.-221+606G>T | |
| ENST00000566503.1:c.-221+606G>T | ENSP00000455846.1:n.-221+606G>T | |
| ENST00000567032.5:c.-30+330G>T | ENSP00000456585.1:n.-30+330G>T | |
| ENST00000569630.5:c.-27+606G>T | ENSP00000455051.1:n.-27+606G>T | |
| ENST00000617691.4:c.-27+606G>T | ENSP00000482863.1:n.-27+606G>T | |
| NM_000499.3:c.-27+606G>T | NP_000490.1:n.-27+606G>T | |
| XM_005254185.1:c.-30+606G>T | XP_005254242.1:n.-30+606G>T | |
| NM_000499.5:c.-27+606G>T | NP_000490.1:n.-27+606G>T | |
| NM_001319216.2:c.-30+606G>T | NP_001306145.1:n.-30+606G>T | |
| NM_001319217.2:c.-30+606G>T MANE Select | NP_001306146.1:n.-30+606G>T |