Linked Data
ClinVar Variation Id:
2523116
ClinVar RCV Id:
RCV003265718
dbSNP Id:
rs772028476
ExAC:
12:125453145 G / A
gnomAD v2:
12-125453145-G-A
gnomAD v3:
12-124968599-G-A
gnomAD v4:
12-124968599-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.124968599G>A , CM000674.2:g.124968599G>A | GRCh38 |
| NC_000012.11:g.125453145G>A , CM000674.1:g.125453145G>A | GRCh37 |
| NC_000012.10:g.124019098G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308736.7:c.1343C>T MANE Select | ENSP00000311135.2:p.Pro448Leu | |
| ENST00000544745.2:c.814C>T | ||
| ENST00000679875.1:n.1415C>T | ||
| ENST00000308736.6:c.1343C>T | ENSP00000311135.2:p.Pro448Leu | |
| ENST00000539298.1:n.1443C>T | ||
| ENST00000544745.1:c.704C>T | ENSP00000439009.1:p.Pro235Leu | |
| NM_032656.3:c.1343C>T | NP_116045.2:p.Pro448Leu | |
| XM_005253590.2:c.1343C>T | XP_005253647.1:p.Pro448Leu | |
| XM_011538597.1:c.1343C>T | XP_011536899.1:p.Pro448Leu | |
| XM_011538598.1:c.1343C>T | XP_011536900.1:p.Pro448Leu | |
| XM_011538599.1:c.1343C>T | XP_011536901.1:p.Pro448Leu | |
| XM_011538600.1:c.1343C>T | XP_011536902.1:p.Pro448Leu | |
| XM_005253590.3:c.1343C>T | XP_005253647.1:p.Pro448Leu | |
| XM_011538598.2:c.1343C>T | XP_011536900.1:p.Pro448Leu | |
| XM_011538600.2:c.1343C>T | XP_011536902.1:p.Pro448Leu | |
| XR_001748819.1:n.1446C>T | ||
| XR_001748820.1:n.1446C>T | ||
| NM_032656.4:c.1343C>T MANE Select | NP_116045.2:p.Pro448Leu |