Linked Data
ClinVar Variation Id:
363099
ClinVar RCV Id:
RCV000357735
dbSNP Id:
rs2923444
gnomAD v2:
8-42397004-C-T
gnomAD v3:
8-42541861-C-T
gnomAD v4:
8-42541861-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.42541861C>T , CM000670.2:g.42541861C>T | GRCh38 |
| NC_000008.10:g.42397004C>T , CM000670.1:g.42397004C>T | GRCh37 |
| NC_000008.9:g.42516161C>T | NCBI36 |
| NG_032161.1:g.5353G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000417410.7:c.-517C>T (SMIM19) MANE Select | ENSP00000405694.2:n.-517C>T | |
| ENST00000342228.7:c.-305G>A (SLC20A2) | ENSP00000340465.3:n.-305G>A | |
| ENST00000414154.6:c.-5+156C>T (SMIM19) | ENSP00000408997.2:n.-5+156C>T | |
| ENST00000416469.6:c.-299C>T (SMIM19) | ENSP00000390750.2:n.-299C>T | |
| ENST00000417410.6:c.-517C>T (SMIM19) | ENSP00000405694.2:n.-517C>T | |
| ENST00000438528.7:c.-5+662C>T (SMIM19) | ENSP00000391549.2:n.-5+662C>T | |
| ENST00000498447.5:c.-5+156C>T (SMIM19) | ENSP00000430708.1:n.-5+156C>T | |
| ENST00000518574.1:c.-17+156C>T (SMIM19) | ENSP00000430387.1:n.-17+156C>T | |
| ENST00000529505.1:n.200C>T (SMIM19) | ||
| NM_001135674.1:c.-517C>T (SMIM19) | NP_001129146.1:n.-517C>T | |
| NM_001135675.1:c.-299C>T (SMIM19) | NP_001129147.1:n.-299C>T | |
| NM_001135676.1:c.-5+662C>T (SMIM19) | NP_001129148.1:n.-5+662C>T | |
| NM_006749.4:c.-305G>A (SLC20A2) | NP_006740.1:n.-305G>A | |
| NM_138436.3:c.-5+156C>T (SMIM19) | NP_612445.2:n.-5+156C>T | |
| XM_005273398.4:c.-588C>T (SMIM19) | XP_005273455.1:n.-588C>T | |
| XM_017013748.1:c.-266G>A (SLC20A2) | XP_016869237.1:n.-266G>A | |
| XM_017013752.2:c.-812G>A (SLC20A2) | XP_016869241.1:n.-812G>A | |
| XM_024447237.1:c.-266G>A (SLC20A2) | XP_024303005.1:n.-266G>A | |
| NM_001135674.2:c.-517C>T (SMIM19) MANE Select | NP_001129146.1:n.-517C>T | |
| NM_001135675.2:c.-299C>T (SMIM19) | NP_001129147.1:n.-299C>T | |
| NM_001135676.2:c.-5+662C>T (SMIM19) | NP_001129148.1:n.-5+662C>T | |
| NM_001363186.2:c.-588C>T (SMIM19) | NP_001350115.1:n.-588C>T | |
| NM_006749.5:c.-305G>A (SLC20A2) | NP_006740.1:n.-305G>A | |
| NM_138436.4:c.-5+156C>T (SMIM19) | NP_612445.2:n.-5+156C>T |