Linked Data
ClinVar Variation Id:
1364087
ClinVar RCV Id:
RCV001905229
dbSNP Id:
rs2145870190
gnomAD v4:
19-38572197-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38572197C>T , CM000681.2:g.38572197C>T | GRCh38 |
| NC_000019.9:g.39062837C>T , CM000681.1:g.39062837C>T | GRCh37 |
| NC_000019.8:g.43754677C>T | NCBI36 |
| NG_008866.1:g.143498C>T , LRG_766:g.143498C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593677.2:c.861C>T | ||
| ENST00000688602.1:c.2258C>T | ||
| ENST00000689936.1:c.2230C>T | ||
| ENST00000359596.8:c.13925C>T MANE Select | ENSP00000352608.2:p.Pro4642Leu | |
| ENST00000355481.8:c.13910C>T | ENSP00000347667.3:p.Pro4637Leu | |
| ENST00000359596.7:c.13925C>T | ENSP00000352608.2:p.Pro4642Leu | |
| ENST00000360985.7:c.13907C>T | ENSP00000354254.4:p.Pro4636Leu | |
| ENST00000593677.1:c.385C>T | ||
| NM_000540.2:c.13925C>T , LRG_766t1:c.13925C>T | NP_000531.2:p.Pro4642Leu | |
| NM_001042723.1:c.13910C>T | NP_001036188.1:p.Pro4637Leu | |
| XM_006723317.1:c.13907C>T | XP_006723380.1:p.Pro4636Leu | |
| XM_006723319.1:c.13892C>T | XP_006723382.1:p.Pro4631Leu | |
| XM_011527204.1:c.13922C>T | XP_011525506.1:p.Pro4641Leu | |
| XM_011527205.1:c.13838C>T | XP_011525507.1:p.Pro4613Leu | |
| XM_006723317.2:c.13907C>T | XP_006723380.1:p.Pro4636Leu | |
| XM_006723319.2:c.13892C>T | XP_006723382.1:p.Pro4631Leu | |
| XM_011527205.2:c.13838C>T | XP_011525507.1:p.Pro4613Leu | |
| NM_000540.3:c.13925C>T MANE Select | NP_000531.2:p.Pro4642Leu | |
| NM_001042723.2:c.13910C>T | NP_001036188.1:p.Pro4637Leu |