Linked Data
ClinVar Variation Id:
159836
ClinVar RCV Id:
RCV000147414
RCV000263490
RCV000298868
RCV000330379
RCV000355981
RCV000551499
RCV001081860
RCV002498670
dbSNP Id:
rs146072491
ExAC:
19:39071087 C / T
gnomAD v2:
19-39071087-C-T
gnomAD v3:
19-38580447-C-T
gnomAD v4:
19-38580447-C-T
PubMed:
PMID:22473935
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38580447C>T , CM000681.2:g.38580447C>T | GRCh38 |
| NC_000019.9:g.39071087C>T , CM000681.1:g.39071087C>T | GRCh37 |
| NC_000019.8:g.43762927C>T | NCBI36 |
| NG_008866.1:g.151748C>T , LRG_766:g.151748C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000593677.2:c.1525C>T | ||
| ENST00000688602.1:c.2922C>T | ||
| ENST00000689936.1:c.2894C>T | ||
| ENST00000359596.8:c.14589C>T MANE Select | ENSP00000352608.2:p.Phe4863= | |
| ENST00000355481.8:c.14574C>T | ENSP00000347667.3:p.Phe4858= | |
| ENST00000359596.7:c.14589C>T | ENSP00000352608.2:p.Phe4863= | |
| ENST00000360985.7:c.14571C>T | ENSP00000354254.4:p.Phe4857= | |
| NM_000540.2:c.14589C>T , LRG_766t1:c.14589C>T | NP_000531.2:p.Phe4863= | |
| NM_001042723.1:c.14574C>T | NP_001036188.1:p.Phe4858= | |
| XM_006723317.1:c.14571C>T | XP_006723380.1:p.Phe4857= | |
| XM_006723319.1:c.14556C>T | XP_006723382.1:p.Phe4852= | |
| XM_011527204.1:c.14586C>T | XP_011525506.1:p.Phe4862= | |
| XM_011527205.1:c.14502C>T | XP_011525507.1:p.Phe4834= | |
| XM_006723317.2:c.14571C>T | XP_006723380.1:p.Phe4857= | |
| XM_006723319.2:c.14556C>T | XP_006723382.1:p.Phe4852= | |
| XM_011527205.2:c.14502C>T | XP_011525507.1:p.Phe4834= | |
| NM_000540.3:c.14589C>T MANE Select | NP_000531.2:p.Phe4863= | |
| NM_001042723.2:c.14574C>T | NP_001036188.1:p.Phe4858= |