Linked Data
ClinVar Variation Id:
315542
ClinVar RCV Id:
RCV000296383
dbSNP Id:
rs552491692
gnomAD v2:
15-34522240-C-A
gnomAD v3:
15-34230039-C-A
gnomAD v4:
15-34230039-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34230039C>A , CM000677.2:g.34230039C>A | GRCh38 |
| NC_000015.9:g.34522240C>A , CM000677.1:g.34522240C>A | GRCh37 |
| NC_000015.8:g.32309532C>A | NCBI36 |
| NG_007951.1:g.113026G>T , LRG_270:g.113026G>T | |
| NG_054746.1:g.10043C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267750.9:c.*251C>A (EMC4) MANE Select | ENSP00000267750.4:n.*251C>A | |
| ENST00000354181.8:c.*3842G>T (SLC12A6) MANE Select | ENSP00000346112.3:n.*3842G>T | |
| ENST00000676379.1:c.*2461G>T (SLC12A6) | ENSP00000502539.1:n.*2461G>T | |
| ENST00000249209.8:c.*192C>A (EMC4) | ENSP00000249209.4:n.*192C>A | |
| ENST00000267750.8:c.*251C>A (EMC4) | ENSP00000267750.4:n.*251C>A | |
| ENST00000290209.9:c.*3842G>T (SLC12A6) | ENSP00000290209.5:n.*3842G>T | |
| ENST00000558205.5:c.*556C>A (EMC4) | ENSP00000454042.1:n.*556C>A | |
| ENST00000560947.1:c.592C>A (EMC4) | ||
| ENST00000561246.1:n.1909C>A (EMC4) | ||
| NM_001042494.1:c.*3842G>T (SLC12A6) | NP_001035959.1:n.*3842G>T | |
| NM_001042495.1:c.*3842G>T (SLC12A6) | NP_001035960.1:n.*3842G>T | |
| NM_001042496.1:c.*3842G>T (SLC12A6) | NP_001035961.1:n.*3842G>T | |
| NM_001042497.1:c.*3842G>T (SLC12A6) | NP_001035962.1:n.*3842G>T | |
| NM_001286420.1:c.*192C>A (EMC4) | NP_001273349.1:n.*192C>A | |
| NM_005135.2:c.*3842G>T , LRG_270t1:c.*3842G>T (SLC12A6) | NP_005126.1:n.*3842G>T | |
| NM_016454.3:c.*251C>A (EMC4) | NP_057538.1:n.*251C>A | |
| NM_133647.1:c.*3842G>T , LRG_270t2:c.*3842G>T (SLC12A6) | NP_598408.1:n.*3842G>T | |
| XM_011522267.1:c.*3842G>T (SLC12A6) | XP_011520569.1:n.*3842G>T | |
| XM_011522268.1:c.*3842G>T (SLC12A6) | XP_011520570.1:n.*3842G>T | |
| XR_429476.2:n.6517G>T (SLC12A6) | ||
| NM_001351373.1:c.*251C>A (EMC4) | NP_001338302.1:n.*251C>A | |
| NM_001365088.1:c.*3842G>T (SLC12A6) MANE Select | NP_001352017.1:n.*3842G>T | |
| NR_147140.1:n.768C>A (EMC4) | ||
| XM_006720793.4:c.*3842G>T (SLC12A6) | XP_006720856.1:n.*3842G>T | |
| NM_016454.4:c.*251C>A (EMC4) MANE Select | NP_057538.1:n.*251C>A | |
| NM_001042494.2:c.*3842G>T (SLC12A6) | NP_001035959.1:n.*3842G>T | |
| NM_001042495.2:c.*3842G>T (SLC12A6) | NP_001035960.1:n.*3842G>T | |
| NM_001042496.2:c.*3842G>T (SLC12A6) | NP_001035961.1:n.*3842G>T | |
| NM_001042497.2:c.*3842G>T (SLC12A6) | NP_001035962.1:n.*3842G>T | |
| NM_001286420.2:c.*192C>A (EMC4) | NP_001273349.1:n.*192C>A | |
| NM_001351373.2:c.*251C>A (EMC4) | NP_001338302.1:n.*251C>A | |
| NR_147140.2:n.749C>A (EMC4) | ||
| NM_133647.2:c.*3842G>T (SLC12A6) | NP_598408.1:n.*3842G>T |