Linked Data
ClinVar Variation Id:
224407
dbSNP Id:
rs199866740
ExAC:
19:39076777 C / T
gnomAD v2:
19-39076777-C-T
gnomAD v3:
19-38586137-C-T
gnomAD v4:
19-38586137-C-T
PubMed:
PMID:24195946
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38586137C>T , CM000681.2:g.38586137C>T | GRCh38 |
| NC_000019.9:g.39076777C>T , CM000681.1:g.39076777C>T | GRCh37 |
| NC_000019.8:g.43768617C>T | NCBI36 |
| NG_008866.1:g.157438C>T , LRG_766:g.157438C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593677.2:c.1851C>T | ||
| ENST00000688602.1:c.3248C>T | ||
| ENST00000689936.1:c.3220C>T | ||
| ENST00000692547.1:n.308C>T | ||
| ENST00000359596.8:c.14915C>T MANE Select | ENSP00000352608.2:p.Thr4972Ile | |
| ENST00000355481.8:c.14900C>T | ENSP00000347667.3:p.Thr4967Ile | |
| ENST00000359596.7:c.14915C>T | ENSP00000352608.2:p.Thr4972Ile | |
| ENST00000360985.7:c.14897C>T | ENSP00000354254.4:p.Thr4966Ile | |
| NM_000540.2:c.14915C>T , LRG_766t1:c.14915C>T | NP_000531.2:p.Thr4972Ile | |
| NM_001042723.1:c.14900C>T | NP_001036188.1:p.Thr4967Ile | |
| XM_006723317.1:c.14897C>T | XP_006723380.1:p.Thr4966Ile | |
| XM_006723319.1:c.14882C>T | XP_006723382.1:p.Thr4961Ile | |
| XM_011527204.1:c.14912C>T | XP_011525506.1:p.Thr4971Ile | |
| XM_011527205.1:c.14828C>T | XP_011525507.1:p.Thr4943Ile | |
| XM_006723317.2:c.14897C>T | XP_006723380.1:p.Thr4966Ile | |
| XM_006723319.2:c.14882C>T | XP_006723382.1:p.Thr4961Ile | |
| XM_011527205.2:c.14828C>T | XP_011525507.1:p.Thr4943Ile | |
| NM_000540.3:c.14915C>T MANE Select | NP_000531.2:p.Thr4972Ile | |
| NM_001042723.2:c.14900C>T | NP_001036188.1:p.Thr4967Ile |