Linked Data
ClinVar Variation Id:
363100
ClinVar RCV Id:
RCV000265277
dbSNP Id:
rs574357175
gnomAD v2:
8-42397088-C-T
gnomAD v3:
8-42541945-C-T
gnomAD v4:
8-42541945-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.42541945C>T , CM000670.2:g.42541945C>T | GRCh38 |
| NC_000008.10:g.42397088C>T , CM000670.1:g.42397088C>T | GRCh37 |
| NC_000008.9:g.42516245C>T | NCBI36 |
| NG_032161.1:g.5269G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000417410.7:c.-433C>T (SMIM19) MANE Select | ENSP00000405694.2:n.-433C>T | |
| ENST00000414154.6:c.-5+240C>T (SMIM19) | ENSP00000408997.2:n.-5+240C>T | |
| ENST00000416469.6:c.-215C>T (SMIM19) | ENSP00000390750.2:n.-215C>T | |
| ENST00000417410.6:c.-433C>T (SMIM19) | ENSP00000405694.2:n.-433C>T | |
| ENST00000438528.7:c.-5+746C>T (SMIM19) | ENSP00000391549.2:n.-5+746C>T | |
| ENST00000498447.5:c.-5+240C>T (SMIM19) | ENSP00000430708.1:n.-5+240C>T | |
| ENST00000518574.1:c.-17+240C>T (SMIM19) | ENSP00000430387.1:n.-17+240C>T | |
| ENST00000529505.1:n.284C>T (SMIM19) | ||
| NM_001135674.1:c.-433C>T (SMIM19) | NP_001129146.1:n.-433C>T | |
| NM_001135675.1:c.-215C>T (SMIM19) | NP_001129147.1:n.-215C>T | |
| NM_001135676.1:c.-5+746C>T (SMIM19) | NP_001129148.1:n.-5+746C>T | |
| NM_006749.4:c.-389G>A (SLC20A2) | NP_006740.1:n.-389G>A | |
| NM_138436.3:c.-5+240C>T (SMIM19) | NP_612445.2:n.-5+240C>T | |
| XM_005273398.3:c.-504C>T (SMIM19) | XP_005273455.1:n.-504C>T | |
| NM_001363186.1:c.-504C>T (SMIM19) | NP_001350115.1:n.-504C>T | |
| XM_005273398.4:c.-504C>T (SMIM19) | XP_005273455.1:n.-504C>T | |
| XM_017013748.1:c.-350G>A (SLC20A2) | XP_016869237.1:n.-350G>A | |
| XM_017013752.2:c.-896G>A (SLC20A2) | XP_016869241.1:n.-896G>A | |
| NM_001135674.2:c.-433C>T (SMIM19) MANE Select | NP_001129146.1:n.-433C>T | |
| NM_001135675.2:c.-215C>T (SMIM19) | NP_001129147.1:n.-215C>T | |
| NM_001135676.2:c.-5+746C>T (SMIM19) | NP_001129148.1:n.-5+746C>T | |
| NM_001363186.2:c.-504C>T (SMIM19) | NP_001350115.1:n.-504C>T | |
| NM_006749.5:c.-389G>A (SLC20A2) | NP_006740.1:n.-389G>A | |
| NM_138436.4:c.-5+240C>T (SMIM19) | NP_612445.2:n.-5+240C>T |