Linked Data
ClinVar Variation Id:
1899489
ClinVar RCV Id:
RCV002582761
dbSNP Id:
rs121912885
ExAC:
12:48377218 G / T
gnomAD v2:
12-48377218-G-T
gnomAD v4:
12-47983435-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.47983435G>T , CM000674.2:g.47983435G>T | GRCh38 |
| NC_000012.11:g.48377218G>T , CM000674.1:g.48377218G>T | GRCh37 |
| NC_000012.10:g.46663485G>T | NCBI36 |
| NG_008072.1:g.26068C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000337299.7:c.1792C>A | ENSP00000338213.6:p.Leu598Ile | |
| ENST00000380518.8:c.1999C>A MANE Select | ENSP00000369889.3:p.Leu667Ile | |
| ENST00000337299.6:c.1792C>A | ENSP00000338213.6:p.Leu598Ile | |
| ENST00000380518.7:c.1999C>A | ENSP00000369889.3:p.Leu667Ile | |
| ENST00000483376.1:n.177C>A | ||
| ENST00000493991.5:n.923C>A | ||
| NM_001844.4:c.1999C>A | NP_001835.3:p.Leu667Ile | |
| NM_033150.2:c.1792C>A | NP_149162.2:p.Leu598Ile | |
| XM_006719242.2:c.2143C>A | XP_006719305.2:p.Leu715Ile | |
| XM_011537928.1:c.2143C>A | XP_011536230.1:p.Leu715Ile | |
| XM_011537929.1:c.2143C>A | XP_011536231.1:p.Leu715Ile | |
| XM_011537930.1:c.2143C>A | XP_011536232.1:p.Leu715Ile | |
| XM_011537931.1:c.2143C>A | XP_011536233.1:p.Leu715Ile | |
| XM_011537932.1:c.2143C>A | XP_011536234.1:p.Leu715Ile | |
| XM_011537933.1:c.2143C>A | XP_011536235.1:p.Leu715Ile | |
| XM_011537934.1:c.2140C>A | XP_011536236.1:p.Leu714Ile | |
| XM_011537935.1:c.1087C>A | XP_011536237.1:p.Leu363Ile | |
| XM_017018828.1:c.2143C>A | XP_016874317.1:p.Leu715Ile | |
| XM_017018829.1:c.2140C>A | XP_016874318.1:p.Leu714Ile | |
| XM_017018830.1:c.1933C>A | XP_016874319.1:p.Leu645Ile | |
| XM_017018831.2:c.1453C>A | XP_016874320.1:p.Leu485Ile | |
| NM_001844.5:c.1999C>A MANE Select | NP_001835.3:p.Leu667Ile | |
| NM_033150.3:c.1792C>A | NP_149162.2:p.Leu598Ile |