Linked Data
ClinVar Variation Id:
374408
ClinVar RCV Id:
RCV002521465
dbSNP Id:
rs1057518644
gnomAD v4:
8-43192413-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.43192413C>T , CM000670.2:g.43192413C>T | GRCh38 |
| NC_000008.10:g.43047556C>T , CM000670.1:g.43047556C>T | GRCh37 |
| NC_000008.9:g.43166713C>T | NCBI36 |
| NG_009552.1:g.56965C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379644.9:c.1360C>T MANE Select | ENSP00000368965.4:p.Gln454Ter | |
| ENST00000379644.8:c.1360C>T | ENSP00000368965.4:p.Gln454Ter | |
| ENST00000520678.1:n.293C>T | ||
| ENST00000521576.1:c.511C>T | ENSP00000429029.1:p.Gln171Ter | |
| ENST00000524016.5:c.464C>T | ||
| NM_152419.2:c.1360C>T | NP_689632.2:p.Gln454Ter | |
| XM_005273409.1:c.1360C>T | XP_005273466.1:p.Gln454Ter | |
| XM_005273410.1:c.1360C>T | XP_005273467.1:p.Gln454Ter | |
| XM_005273411.1:c.1168C>T | XP_005273468.1:p.Gln390Ter | |
| XM_005273412.2:c.1360C>T | XP_005273469.1:p.Gln454Ter | |
| NM_001363227.1:c.1360C>T | NP_001350156.1:p.Gln454Ter | |
| NM_001363228.1:c.1168C>T | NP_001350157.1:p.Gln390Ter | |
| NM_001363229.1:c.496C>T | NP_001350158.1:p.Gln166Ter | |
| XM_005273412.4:c.1360C>T | XP_005273469.1:p.Gln454Ter | |
| NM_152419.3:c.1360C>T MANE Select | NP_689632.2:p.Gln454Ter | |
| NM_001363227.2:c.1360C>T | NP_001350156.1:p.Gln454Ter | |
| NM_001363228.2:c.1168C>T | NP_001350157.1:p.Gln390Ter | |
| NM_001363229.2:c.496C>T | NP_001350158.1:p.Gln166Ter |