Linked Data
ClinVar Variation Id:
2033064
ClinVar RCV Id:
RCV002885107
dbSNP Id:
rs1363429256
gnomAD v2:
7-107302234-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107661789C>T , CM000669.2:g.107661789C>T | GRCh38 |
| NC_000007.13:g.107302234C>T , CM000669.1:g.107302234C>T | GRCh37 |
| NC_000007.12:g.107089470C>T | NCBI36 |
| NG_008489.1:g.6155C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644269.2:c.148C>T (SLC26A4) MANE Select | ENSP00000494017.1:p.Leu50= | |
| ENST00000265715.7:c.148C>T (SLC26A4) | ENSP00000265715.3:p.Leu50= | |
| ENST00000440056.1:c.148C>T (SLC26A4) | ENSP00000394760.1:p.Leu50= | |
| NM_000441.1:c.148C>T (SLC26A4) | NP_000432.1:p.Leu50= | |
| NR_028137.1:n.10G>A (SLC26A4-AS1) | ||
| XM_005250425.1:c.148C>T (SLC26A4) | XP_005250482.1:p.Leu50= | |
| XM_006716025.2:c.148C>T (SLC26A4) | XP_006716088.1:p.Leu50= | |
| XM_005250425.2:c.148C>T (SLC26A4) | XP_005250482.1:p.Leu50= | |
| XM_006716025.3:c.148C>T (SLC26A4) | XP_006716088.1:p.Leu50= | |
| XM_017012318.1:c.148C>T (SLC26A4) | XP_016867807.1:p.Leu50= | |
| NM_000441.2:c.148C>T (SLC26A4) MANE Select | NP_000432.1:p.Leu50= |