Linked Data
ClinVar Variation Id:
322682
ClinVar RCV Id:
RCV000406300
dbSNP Id:
rs2271158
gnomAD v2:
17-3414160-T-C
gnomAD v3:
17-3510866-T-C
gnomAD v4:
17-3510866-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.3510866T>C , CM000679.2:g.3510866T>C | GRCh38 |
| NC_000017.10:g.3414160T>C , CM000679.1:g.3414160T>C | GRCh37 |
| NC_000017.9:g.3360910T>C | NCBI36 |
| NG_032144.2:g.52130A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000576742.6:c.*3051A>G (TRPV3) MANE Select | ENSP00000461518.2:n.*3051A>G | |
| ENST00000381913.8:c.4686A>G (TRPV3) | ||
| ENST00000541913.5:c.-74+2546A>G (SPATA22) | ENSP00000441920.1:n.-74+2546A>G | |
| ENST00000570318.1:c.-74+2745A>G (SPATA22) | ENSP00000459147.1:n.-74+2745A>G | |
| ENST00000616411.4:c.5379A>G (TRPV3) | ENSP00000483947.1:n.5379A>G | |
| NM_001258205.1:c.*3051A>G (TRPV3) | NP_001245134.1:n.*3051A>G | |
| NM_145068.3:c.*3051A>G (TRPV3) | NP_659505.1:n.*3051A>G | |
| XM_005256829.1:c.-74+2546A>G (SPATA22) | XP_005256886.1:n.-74+2546A>G | |
| XM_005256830.1:c.-74+2546A>G (SPATA22) | XP_005256887.1:n.-74+2546A>G | |
| XM_011523694.1:c.*3051A>G (TRPV3) | XP_011521996.1:n.*3051A>G | |
| XM_011523695.1:c.*3051A>G (TRPV3) | XP_011521997.1:n.*3051A>G | |
| XR_934004.1:n.5498A>G (TRPV3) | ||
| NM_001321336.1:c.-74+2546A>G (SPATA22) | NP_001308265.1:n.-74+2546A>G | |
| NM_001321337.1:c.-74+2546A>G (SPATA22) | NP_001308266.1:n.-74+2546A>G | |
| NM_001258205.2:c.*3051A>G (TRPV3) | NP_001245134.1:n.*3051A>G | |
| NM_145068.4:c.*3051A>G (TRPV3) MANE Select | NP_659505.1:n.*3051A>G | |
| NM_001321336.2:c.-74+2546A>G (SPATA22) | NP_001308265.1:n.-74+2546A>G | |
| NM_001321337.2:c.-74+2546A>G (SPATA22) | NP_001308266.1:n.-74+2546A>G |