Linked Data
dbSNP Id:
rs763856243
ExAC:
16:56938236 C / A
gnomAD v2:
16-56938236-C-A
gnomAD v4:
16-56904324-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56904324C>A , CM000678.2:g.56904324C>A | GRCh38 |
| NC_000016.9:g.56938236C>A , CM000678.1:g.56938236C>A | GRCh37 |
| NC_000016.8:g.55495737C>A | NCBI36 |
| NG_009386.1:g.44118C>A | |
| NG_009386.2:g.44118C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000563236.6:c.2857-71C>A (SLC12A3) MANE Select | ENSP00000456149.2:n.2857-71C>A | |
| ENST00000262502.5:c.2854-71C>A (SLC12A3) | ENSP00000262502.5:n.2854-71C>A | |
| ENST00000438926.6:c.2884-71C>A (SLC12A3) | ENSP00000402152.2:n.2884-71C>A | |
| ENST00000563236.5:c.2857-71C>A (SLC12A3) | ENSP00000456149.1:n.2857-71C>A | |
| ENST00000566786.5:c.2881-71C>A (SLC12A3) | ENSP00000457552.1:n.2881-71C>A | |
| ENST00000569002.1:n.288-71C>A (SLC12A3) | ||
| NM_000339.2:c.2884-71C>A (SLC12A3) | NP_000330.2:n.2884-71C>A | |
| NM_001126107.1:c.2881-71C>A (SLC12A3) | NP_001119579.1:n.2881-71C>A | |
| NM_001126108.1:c.2857-71C>A (SLC12A3) | NP_001119580.1:n.2857-71C>A | |
| NR_106923.1:n.61C>A (MIR6863) | ||
| XM_005256119.1:c.2854-71C>A (SLC12A3) | XP_005256176.1:n.2854-71C>A | |
| XM_005256119.2:c.2854-71C>A (SLC12A3) | XP_005256176.1:n.2854-71C>A | |
| NM_000339.3:c.2884-71C>A (SLC12A3) | NP_000330.3:n.2884-71C>A | |
| NM_001126107.2:c.2881-71C>A (SLC12A3) | NP_001119579.2:n.2881-71C>A | |
| NM_001126108.2:c.2857-71C>A (SLC12A3) MANE Select | NP_001119580.2:n.2857-71C>A |