Linked Data
ClinVar Variation Id:
212557
ClinVar RCV Id:
RCV002051689
dbSNP Id:
rs797046092
gnomAD v4:
9-2622191-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.2622191T>C , CM000671.2:g.2622191T>C | GRCh38 |
| NC_000009.11:g.2622191T>C , CM000671.1:g.2622191T>C | GRCh37 |
| NC_000009.10:g.2612191T>C | NCBI36 |
| NG_012741.1:g.5399T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382096.6:c.2T>C (VLDLR) | ENSP00000371528.2:p.Met1Thr | |
| ENST00000382100.8:c.2T>C (VLDLR) MANE Select | ENSP00000371532.2:p.Met1Thr | |
| ENST00000680243.1:c.2T>C (VLDLR) | ENSP00000505911.1:p.Met1Thr | |
| ENST00000680746.1:c.2T>C (VLDLR) | ENSP00000505030.1:p.Met1Thr | |
| ENST00000680891.1:c.2T>C (VLDLR) | ENSP00000505167.1:p.Met1Thr | |
| ENST00000681306.1:c.2T>C (VLDLR) | ENSP00000506072.1:p.Met1Thr | |
| ENST00000681618.1:c.2T>C (VLDLR) | ENSP00000505773.1:p.Met1Thr | |
| ENST00000681644.1:c.2T>C (VLDLR) | ENSP00000505180.1:p.Met1Thr | |
| ENST00000681806.1:c.2T>C (VLDLR) | ENSP00000505282.1:p.Met1Thr | |
| ENST00000382096.5:c.2T>C (VLDLR) | ENSP00000371528.1:p.Met1Thr | |
| ENST00000382099.2:c.2T>C (VLDLR) | ENSP00000371531.2:p.Met1Thr | |
| ENST00000382100.7:c.2T>C (VLDLR) | ENSP00000371532.2:p.Met1Thr | |
| NM_001018056.1:c.2T>C (VLDLR) | NP_001018066.1:p.Met1Thr | |
| NM_003383.3:c.2T>C (VLDLR) | NP_003374.3:p.Met1Thr | |
| NR_015375.2:n.183A>G (VLDLR-AS1) | ||
| XM_011518029.1:c.2T>C (VLDLR) | XP_011516331.1:p.Met1Thr | |
| NM_001018056.2:c.2T>C (VLDLR) | NP_001018066.1:p.Met1Thr | |
| NM_001322225.1:c.2T>C (VLDLR) | NP_001309154.1:p.Met1Thr | |
| NM_001322226.1:c.2T>C (VLDLR) | NP_001309155.1:p.Met1Thr | |
| NM_003383.4:c.2T>C (VLDLR) | NP_003374.3:p.Met1Thr | |
| XR_001746373.2:n.406T>C (VLDLR) | ||
| XR_002956805.1:n.406T>C (VLDLR) | ||
| NM_003383.5:c.2T>C (VLDLR) MANE Select | NP_003374.3:p.Met1Thr | |
| NM_001018056.3:c.2T>C (VLDLR) | NP_001018066.1:p.Met1Thr | |
| NM_001322225.2:c.2T>C (VLDLR) | NP_001309154.1:p.Met1Thr | |
| NM_001322226.2:c.2T>C (VLDLR) | NP_001309155.1:p.Met1Thr |