Linked Data
ClinVar Variation Id:
738203
ClinVar RCV Id:
RCV000914060
dbSNP Id:
rs1592229736
gnomAD v4:
12-47993836-C-T
MyVariant Identifiers:
chr12:g.48387619C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.47993836C>T , CM000674.2:g.47993836C>T | GRCh38 |
| NC_000012.11:g.48387619C>T , CM000674.1:g.48387619C>T | GRCh37 |
| NC_000012.10:g.46673886C>T | NCBI36 |
| NG_008072.1:g.15667G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337299.7:c.690G>A | ENSP00000338213.6:p.Lys230= | |
| ENST00000380518.8:c.897G>A MANE Select | ENSP00000369889.3:p.Lys299= | |
| ENST00000337299.6:c.690G>A | ENSP00000338213.6:p.Lys230= | |
| ENST00000380518.7:c.897G>A | ENSP00000369889.3:p.Lys299= | |
| NM_001844.4:c.897G>A | NP_001835.3:p.Lys299= | |
| NM_033150.2:c.690G>A | NP_149162.2:p.Lys230= | |
| XM_006719242.2:c.1041G>A | XP_006719305.2:p.Lys347= | |
| XM_011537928.1:c.1041G>A | XP_011536230.1:p.Lys347= | |
| XM_011537929.1:c.1041G>A | XP_011536231.1:p.Lys347= | |
| XM_011537930.1:c.1041G>A | XP_011536232.1:p.Lys347= | |
| XM_011537931.1:c.1041G>A | XP_011536233.1:p.Lys347= | |
| XM_011537932.1:c.1041G>A | XP_011536234.1:p.Lys347= | |
| XM_011537933.1:c.1041G>A | XP_011536235.1:p.Lys347= | |
| XM_011537934.1:c.1038G>A | XP_011536236.1:p.Lys346= | |
| XM_017018828.1:c.1041G>A | XP_016874317.1:p.Lys347= | |
| XM_017018829.1:c.1038G>A | XP_016874318.1:p.Lys346= | |
| XM_017018830.1:c.831G>A | XP_016874319.1:p.Lys277= | |
| XM_017018831.2:c.351G>A | XP_016874320.1:p.Lys117= | |
| NM_001844.5:c.897G>A MANE Select | NP_001835.3:p.Lys299= | |
| NM_033150.3:c.690G>A | NP_149162.2:p.Lys230= |