Linked Data
ClinVar Variation Id:
892
ClinVar RCV Id:
RCV000000940
dbSNP Id:
rs63749888
gnomAD v4:
4-102885221-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.102885221G>C , CM000666.2:g.102885221G>C | GRCh38 |
| NC_000004.11:g.103806378G>C , CM000666.1:g.103806378G>C | GRCh37 |
| NC_000004.10:g.104025813G>C | NCBI36 |
| NG_008636.2:g.21244G>C | |
| NG_008662.2:g.139519C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000273986.10:c.109G>C (CISD2) MANE Select | ENSP00000273986.4:p.Glu37Gln | |
| ENST00000643561.1:c.*91G>C (CISD2) | ENSP00000494068.1:n.*91G>C | |
| ENST00000646632.1:c.*68G>C (CISD2) | ENSP00000494257.1:n.*68G>C | |
| ENST00000273986.8:c.109G>C (CISD2) | ENSP00000273986.4:p.Glu37Gln | |
| ENST00000394789.7:c.*12C>G (SLC9B1) | ENSP00000378269.3:n.*12C>G | |
| ENST00000503584.5:c.*952C>G (SLC9B1) | ENSP00000426926.1:n.*952C>G | |
| ENST00000503643.1:c.139G>C (CISD2) | ENSP00000423716.1:p.Glu47Gln | |
| ENST00000514972.5:c.*709C>G (SLC9B1) | ENSP00000426584.1:n.*709C>G | |
| ENST00000574446.1:c.*68G>C (CISD2) | ENSP00000458976.1:n.*68G>C | |
| NM_001008388.4:c.109G>C (CISD2) | NP_001008389.1:p.Glu37Gln | |
| NM_001100874.2:c.*12C>G (SLC9B1) | NP_001094344.1:n.*12C>G | |
| NR_047513.1:n.1454C>G (SLC9B1) | ||
| NR_047515.1:n.1316C>G (SLC9B1) | ||
| NM_001008388.5:c.109G>C (CISD2) MANE Select | NP_001008389.1:p.Glu37Gln | |
| NM_001100874.3:c.*12C>G (SLC9B1) | NP_001094344.2:n.*12C>G | |
| NR_047513.2:n.1420C>G (SLC9B1) | ||
| NR_047515.2:n.1282C>G (SLC9B1) |