Linked Data
dbSNP Id:
rs1396702888
gnomAD v2:
Y-15027698-C-T
gnomAD v3:
Y-12915786-C-T
gnomAD v4:
Y-12915786-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12915786C>T , CM000686.2:g.12915786C>T | GRCh38 |
| NC_000024.9:g.15027698C>T , CM000686.1:g.15027698C>T | GRCh37 |
| NC_000024.8:g.13537092C>T | NCBI36 |
| NG_012831.1:g.16680C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336079.8:c.1164+12C>T MANE Select | ENSP00000336725.3:n.1164+12C>T | |
| ENST00000336079.7:c.1164+12C>T | ENSP00000336725.3:n.1164+12C>T | |
| ENST00000360160.8:c.1164+12C>T | ENSP00000353284.4:n.1164+12C>T | |
| ENST00000495478.1:n.279+12C>T | ||
| NM_001122665.2:c.1164+12C>T | NP_001116137.1:n.1164+12C>T | |
| NM_001302552.1:c.1155+12C>T | NP_001289481.1:n.1155+12C>T | |
| NM_004660.4:c.1164+12C>T | NP_004651.2:n.1164+12C>T | |
| XM_006724878.1:c.1164+12C>T | XP_006724941.1:n.1164+12C>T | |
| XM_011531471.1:c.1164+12C>T | XP_011529773.1:n.1164+12C>T | |
| NM_001122665.3:c.1164+12C>T | NP_001116137.1:n.1164+12C>T | |
| NM_001302552.2:c.1155+12C>T | NP_001289481.1:n.1155+12C>T | |
| NM_001324195.1:c.1164+12C>T | NP_001311124.1:n.1164+12C>T | |
| NR_136716.1:n.1633+12C>T | ||
| NR_136717.1:n.1395+12C>T | ||
| NR_136718.1:n.1713+12C>T | ||
| NR_136719.1:n.1503+12C>T | ||
| NR_136720.1:n.1633+12C>T | ||
| NR_136721.1:n.1226+12C>T | ||
| NR_136722.1:n.1310+12C>T | ||
| NR_136723.1:n.1628+12C>T | ||
| NR_136724.1:n.1548+12C>T | ||
| XR_001756014.2:n.1268+12C>T | ||
| NM_004660.5:c.1164+12C>T MANE Select | NP_004651.2:n.1164+12C>T | |
| NM_001302552.3:c.1155+12C>T | NP_001289481.1:n.1155+12C>T | |
| NM_001324195.2:c.1164+12C>T | NP_001311124.1:n.1164+12C>T | |
| NR_136716.2:n.1551+12C>T | ||
| NR_136717.2:n.1313+12C>T | ||
| NR_136718.2:n.1631+12C>T | ||
| NR_136719.2:n.1421+12C>T | ||
| NR_136720.2:n.1551+12C>T | ||
| NR_136721.2:n.1216+12C>T |