Linked Data
ClinVar Variation Id:
161377
dbSNP Id:
rs143520367
ExAC:
19:39062672 C / T
gnomAD v2:
19-39062672-C-T
gnomAD v3:
19-38572032-C-T
gnomAD v4:
19-38572032-C-T
ERepo:
CA024070/MONDO:0018493/012
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38572032C>T , CM000681.2:g.38572032C>T | GRCh38 |
| NC_000019.9:g.39062672C>T , CM000681.1:g.39062672C>T | GRCh37 |
| NC_000019.8:g.43754512C>T | NCBI36 |
| NG_008866.1:g.143333C>T , LRG_766:g.143333C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593677.2:c.696C>T | ||
| ENST00000688602.1:c.2093C>T | ||
| ENST00000689936.1:c.2065C>T | ||
| ENST00000359596.8:c.13760C>T MANE Select | ENSP00000352608.2:p.Pro4587Leu | |
| ENST00000355481.8:c.13745C>T | ENSP00000347667.3:p.Pro4582Leu | |
| ENST00000359596.7:c.13760C>T | ENSP00000352608.2:p.Pro4587Leu | |
| ENST00000360985.7:c.13742C>T | ENSP00000354254.4:p.Pro4581Leu | |
| ENST00000593677.1:c.220C>T | ||
| NM_000540.2:c.13760C>T , LRG_766t1:c.13760C>T | NP_000531.2:p.Pro4587Leu | |
| NM_001042723.1:c.13745C>T | NP_001036188.1:p.Pro4582Leu | |
| XM_006723317.1:c.13742C>T | XP_006723380.1:p.Pro4581Leu | |
| XM_006723319.1:c.13727C>T | XP_006723382.1:p.Pro4576Leu | |
| XM_011527204.1:c.13757C>T | XP_011525506.1:p.Pro4586Leu | |
| XM_011527205.1:c.13673C>T | XP_011525507.1:p.Pro4558Leu | |
| XM_006723317.2:c.13742C>T | XP_006723380.1:p.Pro4581Leu | |
| XM_006723319.2:c.13727C>T | XP_006723382.1:p.Pro4576Leu | |
| XM_011527205.2:c.13673C>T | XP_011525507.1:p.Pro4558Leu | |
| NM_000540.3:c.13760C>T MANE Select | NP_000531.2:p.Pro4587Leu | |
| NM_001042723.2:c.13745C>T | NP_001036188.1:p.Pro4582Leu |