Linked Data
ClinVar Variation Id:
322735
ClinVar RCV Id:
RCV000389109
dbSNP Id:
rs7208811
gnomAD v2:
17-3416555-C-A
gnomAD v3:
17-3513261-C-A
gnomAD v4:
17-3513261-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.3513261C>A , CM000679.2:g.3513261C>A | GRCh38 |
| NC_000017.10:g.3416555C>A , CM000679.1:g.3416555C>A | GRCh37 |
| NC_000017.9:g.3363305C>A | NCBI36 |
| NG_032144.2:g.49735G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000576742.6:c.*656G>T (TRPV3) MANE Select | ENSP00000461518.2:n.*656G>T | |
| ENST00000301365.8:c.*656G>T (TRPV3) | ENSP00000301365.4:n.*656G>T | |
| ENST00000381913.8:c.2291G>T (TRPV3) | ||
| ENST00000541913.5:c.-74+151G>T (SPATA22) | ENSP00000441920.1:n.-74+151G>T | |
| ENST00000570318.1:c.-74+350G>T (SPATA22) | ENSP00000459147.1:n.-74+350G>T | |
| ENST00000577016.5:c.1550G>T (TRPV3) | ||
| ENST00000616411.4:c.2984G>T (TRPV3) | ENSP00000483947.1:n.2984G>T | |
| NM_001258205.1:c.*656G>T (TRPV3) | NP_001245134.1:n.*656G>T | |
| NM_145068.3:c.*656G>T (TRPV3) | NP_659505.1:n.*656G>T | |
| XM_005256829.1:c.-74+151G>T (SPATA22) | XP_005256886.1:n.-74+151G>T | |
| XM_005256830.1:c.-74+151G>T (SPATA22) | XP_005256887.1:n.-74+151G>T | |
| XM_011523694.1:c.*656G>T (TRPV3) | XP_011521996.1:n.*656G>T | |
| XM_011523695.1:c.*656G>T (TRPV3) | XP_011521997.1:n.*656G>T | |
| XR_934004.1:n.3103G>T (TRPV3) | ||
| NM_001321336.1:c.-74+151G>T (SPATA22) | NP_001308265.1:n.-74+151G>T | |
| NM_001321337.1:c.-74+151G>T (SPATA22) | NP_001308266.1:n.-74+151G>T | |
| NM_001258205.2:c.*656G>T (TRPV3) | NP_001245134.1:n.*656G>T | |
| NM_145068.4:c.*656G>T (TRPV3) MANE Select | NP_659505.1:n.*656G>T | |
| NM_001321336.2:c.-74+151G>T (SPATA22) | NP_001308265.1:n.-74+151G>T | |
| NM_001321337.2:c.-74+151G>T (SPATA22) | NP_001308266.1:n.-74+151G>T |