Linked Data
ClinVar Variation Id:
45951
dbSNP Id:
rs199741966
ExAC:
10:73326529 G / A
gnomAD v2:
10-73326529-G-A
gnomAD v3:
10-71566772-G-A
gnomAD v4:
10-71566772-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71566772G>A , CM000672.2:g.71566772G>A | GRCh38 |
| NC_000010.10:g.73326529G>A , CM000672.1:g.73326529G>A | GRCh37 |
| NC_000010.9:g.72996535G>A | NCBI36 |
| NG_008835.1:g.174826G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.460G>A MANE Select | ENSP00000224721.9:p.Val154Met | |
| ENST00000398809.9:c.460G>A | ENSP00000381789.5:p.Val154Met | |
| ENST00000442677.4:c.460G>A | ENSP00000388894.3:p.Val154Met | |
| ENST00000643732.1:n.236G>A | ||
| ENST00000646131.1:c.124G>A | ENSP00000495098.1:p.Val42Met | |
| ENST00000224721.10:c.475G>A | ENSP00000224721.8:p.Val159Met | |
| ENST00000299366.11:c.460G>A | ENSP00000299366.8:p.Val154Met | |
| ENST00000398809.8:c.460G>A | ENSP00000381789.5:p.Val154Met | |
| ENST00000398842.7:c.283G>A | ENSP00000381822.4:p.Val95Met | |
| ENST00000461841.7:c.460G>A | ENSP00000473454.2:p.Val154Met | |
| ENST00000616684.4:c.460G>A | ENSP00000482036.2:p.Val154Met | |
| ENST00000622827.4:c.460G>A | ENSP00000483211.1:p.Val154Met | |
| NM_001171930.1:c.460G>A | NP_001165401.1:p.Val154Met | |
| NM_001171931.1:c.460G>A | NP_001165402.1:p.Val154Met | |
| NM_001171932.1:c.460G>A | NP_001165403.1:p.Val154Met | |
| NM_022124.5:c.460G>A | NP_071407.4:p.Val154Met | |
| NM_052836.3:c.460G>A | NP_443068.1:p.Val154Met | |
| XM_006717940.2:c.595G>A | XP_006718003.1:p.Val199Met | |
| XM_006717942.2:c.595G>A | XP_006718005.1:p.Val199Met | |
| XM_011540039.1:c.595G>A | XP_011538341.1:p.Val199Met | |
| XM_011540040.1:c.595G>A | XP_011538342.1:p.Val199Met | |
| XM_011540041.1:c.595G>A | XP_011538343.1:p.Val199Met | |
| XM_011540042.1:c.595G>A | XP_011538344.1:p.Val199Met | |
| XM_011540043.1:c.595G>A | XP_011538345.1:p.Val199Met | |
| XM_011540044.1:c.460G>A | XP_011538346.1:p.Val154Met | |
| XM_011540045.1:c.595G>A | XP_011538347.1:p.Val199Met | |
| XM_011540046.1:c.55G>A | XP_011538348.1:p.Val19Met | |
| XM_011540048.1:c.595G>A | XP_011538350.1:p.Val199Met | |
| XM_011540049.1:c.595G>A | XP_011538351.1:p.Val199Met | |
| XM_011540050.1:c.595G>A | XP_011538352.1:p.Val199Met | |
| XM_011540051.1:c.595G>A | XP_011538353.1:p.Val199Met | |
| XM_011540053.1:c.595G>A | XP_011538355.1:p.Val199Met | |
| XM_011540054.1:c.595G>A | XP_011538356.1:p.Val199Met | |
| XR_246128.2:n.162-1638C>T | ||
| XR_945796.1:n.838G>A | ||
| NM_001171930.2:c.460G>A | NP_001165401.1:p.Val154Met | |
| NM_001171931.2:c.460G>A | NP_001165402.1:p.Val154Met | |
| NM_022124.6:c.460G>A MANE Select | NP_071407.4:p.Val154Met | |
| NM_052836.4:c.460G>A | NP_443068.1:p.Val154Met | |
| NM_001171932.2:c.460G>A | NP_001165403.1:p.Val154Met |