Linked Data
ClinVar Variation Id:
517313
ClinVar RCV Id:
RCV000606613
RCV000851949
RCV000861598
RCV000660563
RCV000851887
RCV001270563
RCV002245051
RCV002280881
RCV003313786
RCV003403425
dbSNP Id:
rs6054
ExAC:
4:155489608 C / T
gnomAD v2:
4-155489608-C-T
gnomAD v3:
4-154568456-C-T
gnomAD v4:
4-154568456-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.154568456C>T , CM000666.2:g.154568456C>T | GRCh38 |
| NC_000004.11:g.155489608C>T , CM000666.1:g.155489608C>T | GRCh37 |
| NC_000004.10:g.155709058C>T | NCBI36 |
| NG_008833.1:g.10477C>T , LRG_558:g.10477C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302068.9:c.794C>T MANE Select | ENSP00000306099.4:p.Pro265Leu | |
| ENST00000302068.8:c.794C>T | ENSP00000306099.4:p.Pro265Leu | |
| ENST00000502545.5:n.775C>T | ||
| ENST00000509493.1:c.137C>T | ENSP00000426757.1:p.Pro46Leu | |
| NM_001184741.1:c.617C>T | NP_001171670.1:p.Pro206Leu | |
| NM_005141.4:c.794C>T , LRG_558t1:c.794C>T | NP_005132.2:p.Pro265Leu | |
| NM_001382759.1:c.662C>T | NP_001369688.1:p.Pro221Leu | |
| NM_001382760.1:c.794C>T | NP_001369689.1:p.Pro265Leu | |
| NM_001382761.1:c.794C>T | NP_001369690.1:p.Pro265Leu | |
| NM_001382762.1:c.745+49C>T | NP_001369691.1:n.745+49C>T | |
| NM_001382763.1:c.794C>T | NP_001369692.1:p.Pro265Leu | |
| NM_001382764.1:c.794C>T | NP_001369693.1:p.Pro265Leu | |
| NM_001382765.1:c.794C>T | NP_001369694.1:p.Pro265Leu | |
| NM_005141.5:c.794C>T MANE Select | NP_005132.2:p.Pro265Leu |