Linked Data
ClinVar Variation Id:
45307
dbSNP Id:
rs4759043
ExAC:
12:57433051 G / A
gnomAD v2:
12-57433051-G-A
gnomAD v3:
12-57039267-G-A
gnomAD v4:
12-57039267-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57039267G>A , CM000674.2:g.57039267G>A | GRCh38 |
| NC_000012.11:g.57433051G>A , CM000674.1:g.57433051G>A | GRCh37 |
| NC_000012.10:g.55719318G>A | NCBI36 |
| NG_012104.1:g.15843C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300119.8:c.1277C>T MANE Select | ENSP00000300119.3:p.Pro426Leu | |
| ENST00000300119.7:c.1277C>T | ENSP00000300119.3:p.Pro426Leu | |
| ENST00000442789.6:c.1277C>T | ENSP00000393392.2:p.Pro426Leu | |
| ENST00000476795.1:n.174C>T | ||
| ENST00000554234.5:c.791C>T | ENSP00000451033.1:p.Pro264Leu | |
| NM_001256041.1:c.1277C>T | NP_001242970.1:p.Pro426Leu | |
| NM_005379.3:c.1277C>T | NP_005370.1:p.Pro426Leu | |
| XM_011538373.1:c.1277C>T | XP_011536675.1:p.Pro426Leu | |
| XM_011538373.2:c.1277C>T | XP_011536675.1:p.Pro426Leu | |
| NM_005379.4:c.1277C>T MANE Select | NP_005370.1:p.Pro426Leu | |
| NM_001256041.2:c.1277C>T | NP_001242970.1:p.Pro426Leu |