Linked Data
dbSNP Id:
rs746697134
gnomAD v2:
16-56938193-G-T
gnomAD v3:
16-56904281-G-T
gnomAD v4:
16-56904281-G-T
MyVariant Identifiers:
chr16:g.56938193_56938195delinsTTC (hg19)
chr16:g.56904281_56904283delinsTTC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56904281G>T , CM000678.2:g.56904281G>T | GRCh38 |
| NC_000016.9:g.56938193G>T , CM000678.1:g.56938193G>T | GRCh37 |
| NC_000016.8:g.55495694G>T | NCBI36 |
| NG_009386.1:g.44075G>T | |
| NG_009386.2:g.44075G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000563236.6:c.2857-114G>T (SLC12A3) MANE Select | ENSP00000456149.2:n.2857-114G>T | |
| ENST00000262502.5:c.2854-114G>T (SLC12A3) | ENSP00000262502.5:n.2854-114G>T | |
| ENST00000438926.6:c.2884-114G>T (SLC12A3) | ENSP00000402152.2:n.2884-114G>T | |
| ENST00000563236.5:c.2857-114G>T (SLC12A3) | ENSP00000456149.1:n.2857-114G>T | |
| ENST00000566786.5:c.2881-114G>T (SLC12A3) | ENSP00000457552.1:n.2881-114G>T | |
| ENST00000569002.1:n.288-114G>T (SLC12A3) | ||
| NM_000339.2:c.2884-114G>T (SLC12A3) | NP_000330.2:n.2884-114G>T | |
| NM_001126107.1:c.2881-114G>T (SLC12A3) | NP_001119579.1:n.2881-114G>T | |
| NM_001126108.1:c.2857-114G>T (SLC12A3) | NP_001119580.1:n.2857-114G>T | |
| NR_106923.1:n.18G>T (MIR6863) | ||
| XM_005256119.1:c.2854-114G>T (SLC12A3) | XP_005256176.1:n.2854-114G>T | |
| XM_005256119.2:c.2854-114G>T (SLC12A3) | XP_005256176.1:n.2854-114G>T | |
| NM_000339.3:c.2884-114G>T (SLC12A3) | NP_000330.3:n.2884-114G>T | |
| NM_001126107.2:c.2881-114G>T (SLC12A3) | NP_001119579.2:n.2881-114G>T | |
| NM_001126108.2:c.2857-114G>T (SLC12A3) MANE Select | NP_001119580.2:n.2857-114G>T |