Linked Data
ClinVar Variation Id:
514316
ClinVar RCV Id:
RCV000612068
dbSNP Id:
rs1403366205
gnomAD v3:
12-109833369-C-T
gnomAD v4:
12-109833369-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109833369C>T , CM000674.2:g.109833369C>T | GRCh38 |
| NC_000012.11:g.110271174C>T , CM000674.1:g.110271174C>T | GRCh37 |
| NC_000012.10:g.108755557C>T | NCBI36 |
| NG_017090.1:g.5039G>A , LRG_372:g.5039G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261740.7:c.-51G>A (TRPV4) MANE Select | ENSP00000261740.2:n.-51G>A | |
| ENST00000674908.1:c.-51G>A (TRPV4) | ENSP00000502012.1:n.-51G>A | |
| ENST00000261740.6:c.-51G>A (TRPV4) | ENSP00000261740.2:n.-51G>A | |
| ENST00000538125.5:c.-51G>A (TRPV4) | ENSP00000437449.1:n.-51G>A | |
| NM_021625.4:c.-51G>A , LRG_372t1:c.-51G>A (TRPV4) | NP_067638.3:n.-51G>A | |
| NR_039718.1:n.22C>T (MIR4497) | ||
| NM_021625.5:c.-51G>A (TRPV4) MANE Select | NP_067638.3:n.-51G>A |