Linked Data
dbSNP Id:
rs754318389
gnomAD v2:
8-43048732-C-T
gnomAD v3:
8-43193589-C-T
gnomAD v4:
8-43193589-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.43193589C>T , CM000670.2:g.43193589C>T | GRCh38 |
| NC_000008.10:g.43048732C>T , CM000670.1:g.43048732C>T | GRCh37 |
| NC_000008.9:g.43167889C>T | NCBI36 |
| NG_009552.1:g.58141C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379644.9:c.1378-168C>T MANE Select | ENSP00000368965.4:n.1378-168C>T | |
| ENST00000379644.8:c.1378-168C>T | ENSP00000368965.4:n.1378-168C>T | |
| ENST00000520678.1:n.311-168C>T | ||
| ENST00000521576.1:c.529-168C>T | ENSP00000429029.1:n.529-168C>T | |
| ENST00000524016.5:c.482-168C>T | ||
| NM_152419.2:c.1378-168C>T | NP_689632.2:n.1378-168C>T | |
| XM_005273409.1:c.1378-168C>T | XP_005273466.1:n.1378-168C>T | |
| XM_005273410.1:c.1378-168C>T | XP_005273467.1:n.1378-168C>T | |
| XM_005273411.1:c.1186-168C>T | XP_005273468.1:n.1186-168C>T | |
| XM_005273412.2:c.1378-168C>T | XP_005273469.1:n.1378-168C>T | |
| NM_001363227.1:c.1378-168C>T | NP_001350156.1:n.1378-168C>T | |
| NM_001363228.1:c.1186-168C>T | NP_001350157.1:n.1186-168C>T | |
| NM_001363229.1:c.514-168C>T | NP_001350158.1:n.514-168C>T | |
| XM_005273412.4:c.1378-168C>T | XP_005273469.1:n.1378-168C>T | |
| NM_152419.3:c.1378-168C>T MANE Select | NP_689632.2:n.1378-168C>T | |
| NM_001363227.2:c.1378-168C>T | NP_001350156.1:n.1378-168C>T | |
| NM_001363228.2:c.1186-168C>T | NP_001350157.1:n.1186-168C>T | |
| NM_001363229.2:c.514-168C>T | NP_001350158.1:n.514-168C>T |