Linked Data
ClinVar Variation Id:
1282461
ClinVar RCV Id:
RCV001695853
dbSNP Id:
rs11860115
gnomAD v2:
16-67977696-A-C
gnomAD v3:
16-67943793-A-C
gnomAD v4:
16-67943793-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67943793A>C , CM000678.2:g.67943793A>C | GRCh38 |
| NC_000016.9:g.67977696A>C , CM000678.1:g.67977696A>C | GRCh37 |
| NC_000016.8:g.66535197A>C | NCBI36 |
| NG_009778.1:g.5320T>G | |
| NG_033098.1:g.29902T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264005.10:c.154+155T>G (LCAT) MANE Select | ENSP00000264005.5:n.154+155T>G | |
| ENST00000316341.8:c.*1047T>G (SLC12A4) MANE Select | ENSP00000318557.3:n.*1047T>G | |
| ENST00000264005.9:c.154+155T>G (LCAT) | ENSP00000264005.5:n.154+155T>G | |
| ENST00000316341.7:c.*1047T>G (SLC12A4) | ENSP00000318557.3:n.*1047T>G | |
| ENST00000422611.6:c.*1047T>G (SLC12A4) | ENSP00000395983.2:n.*1047T>G | |
| ENST00000575467.5:c.154+155T>G (LCAT) | ENSP00000460653.1:n.154+155T>G | |
| NM_000229.1:c.154+155T>G (LCAT) | NP_000220.1:n.154+155T>G | |
| NM_001145961.1:c.*1047T>G (SLC12A4) | NP_001139433.1:n.*1047T>G | |
| NM_001145962.1:c.*1047T>G (SLC12A4) | NP_001139434.1:n.*1047T>G | |
| NM_001145963.1:c.*1047T>G (SLC12A4) | NP_001139435.1:n.*1047T>G | |
| NM_001145964.1:c.*1047T>G (SLC12A4) | NP_001139436.1:n.*1047T>G | |
| NM_005072.4:c.*1047T>G (SLC12A4) | NP_005063.1:n.*1047T>G | |
| NM_005072.5:c.*1047T>G (SLC12A4) MANE Select | NP_005063.1:n.*1047T>G | |
| NM_000229.2:c.154+155T>G (LCAT) MANE Select | NP_000220.1:n.154+155T>G | |
| NM_001145961.2:c.*1047T>G (SLC12A4) | NP_001139433.1:n.*1047T>G | |
| NM_001145963.2:c.*1047T>G (SLC12A4) | NP_001139435.1:n.*1047T>G | |
| NM_001145964.2:c.*1047T>G (SLC12A4) | NP_001139436.1:n.*1047T>G |