Linked Data
ClinVar Variation Id:
447380
dbSNP Id:
rs1415041911
gnomAD v2:
7-44185229-C-T
gnomAD v4:
7-44145630-C-T
PubMed:
PMID:19790256
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44145630C>T , CM000669.2:g.44145630C>T | GRCh38 |
| NC_000007.13:g.44185229C>T , CM000669.1:g.44185229C>T | GRCh37 |
| NC_000007.12:g.44151754C>T | NCBI36 |
| NG_008847.1:g.48794G>A | |
| NG_008847.2:g.57541G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395796.8:c.*1118G>A | ENSP00000379142.4:n.*1118G>A | |
| ENST00000616242.5:c.*240G>A | ENSP00000482149.2:n.*240G>A | |
| ENST00000683378.1:n.346G>A | ||
| ENST00000336642.9:c.154G>A | ENSP00000338009.5:p.Val52Met | |
| ENST00000345378.7:c.1123G>A | ENSP00000223366.2:p.Val375Met | |
| ENST00000403799.8:c.1120G>A MANE Select | ENSP00000384247.3:p.Val374Met | |
| ENST00000671824.1:c.1183G>A | ENSP00000500264.1:p.Val395Met | |
| ENST00000672743.1:n.132G>A | ||
| ENST00000673284.1:c.1120G>A | ENSP00000499852.1:p.Val374Met | |
| ENST00000336642.8:c.172G>A | ENSP00000338009.4:p.Val58Met | |
| ENST00000345378.6:c.1123G>A | ENSP00000223366.2:p.Val375Met | |
| ENST00000395796.7:c.1117G>A | ENSP00000379142.3:p.Val373Met | |
| ENST00000403799.7:c.1120G>A | ENSP00000384247.3:p.Val374Met | |
| ENST00000437084.1:c.1069G>A | ENSP00000402840.1:p.Val357Met | |
| ENST00000459642.1:n.500G>A | ||
| ENST00000616242.4:c.1117G>A | ENSP00000482149.1:p.Val373Met | |
| NM_000162.3:c.1120G>A | NP_000153.1:p.Val374Met | |
| NM_033507.1:c.1123G>A | NP_277042.1:p.Val375Met | |
| NM_033508.1:c.1117G>A | NP_277043.1:p.Val373Met | |
| NM_000162.4:c.1120G>A | NP_000153.1:p.Val374Met | |
| NM_001354800.1:c.1120G>A | NP_001341729.1:p.Val374Met | |
| NM_001354801.1:c.109G>A | NP_001341730.1:p.Val37Met | |
| NM_001354802.1:c.-21G>A | NP_001341731.1:n.-21G>A | |
| NM_001354803.1:c.154G>A | NP_001341732.1:p.Val52Met | |
| NM_033507.2:c.1123G>A | NP_277042.1:p.Val375Met | |
| NM_033508.2:c.1117G>A | NP_277043.1:p.Val373Met | |
| XM_024446707.1:c.-21G>A | XP_024302475.1:n.-21G>A | |
| NM_000162.5:c.1120G>A MANE Select | NP_000153.1:p.Val374Met | |
| NM_033507.3:c.1123G>A | NP_277042.1:p.Val375Met | |
| NM_033508.3:c.1117G>A | NP_277043.1:p.Val373Met | |
| NM_001354803.2:c.154G>A | NP_001341732.1:p.Val52Met |