Linked Data
ClinVar Variation Id:
142044
ClinVar RCV Id:
RCV000130848
RCV000236813
RCV000409644
RCV001174857
RCV003905234
RCV003315899
RCV003492605
dbSNP Id:
rs186926737
ExAC:
5:112177928 A / G
gnomAD v2:
5-112177928-A-G
gnomAD v3:
5-112842231-A-G
gnomAD v4:
5-112842231-A-G
PubMed:
PMID:25980754
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112842231A>G , CM000667.2:g.112842231A>G | GRCh38 |
| NC_000005.9:g.112177928A>G , CM000667.1:g.112177928A>G | GRCh37 |
| NC_000005.8:g.112205827A>G | NCBI36 |
| NG_008481.4:g.154711A>G , LRG_130:g.154711A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.6691A>G | ENSP00000473355.2:p.Met2231Val | |
| ENST00000505350.2:c.*6643A>G | ENSP00000481752.1:n.*6643A>G | |
| ENST00000507379.6:c.6583A>G | ENSP00000423224.2:p.Met2195Val | |
| ENST00000509732.6:c.6637A>G | ENSP00000426541.2:p.Met2213Val | |
| ENST00000512211.7:c.6637A>G | ENSP00000423828.3:p.Met2213Val | |
| ENST00000257430.9:c.6637A>G MANE Select | ENSP00000257430.4:p.Met2213Val | |
| ENST00000257430.8:c.6637A>G | ENSP00000257430.4:p.Met2213Val | |
| ENST00000508376.6:c.6637A>G | ENSP00000427089.2:p.Met2213Val | |
| ENST00000508624.5:c.*5959A>G | ENSP00000424265.1:n.*5959A>G | |
| ENST00000520401.1:c.230+13259A>G | ||
| NM_000038.5:c.6637A>G | NP_000029.2:p.Met2213Val | |
| NM_001127510.2:c.6637A>G | NP_001120982.1:p.Met2213Val | |
| NM_001127511.2:c.6583A>G | NP_001120983.2:p.Met2195Val | |
| NM_001354895.1:c.6637A>G | NP_001341824.1:p.Met2213Val | |
| NM_001354896.1:c.6691A>G | NP_001341825.1:p.Met2231Val | |
| NM_001354897.1:c.6667A>G | NP_001341826.1:p.Met2223Val | |
| NM_001354898.1:c.6562A>G | NP_001341827.1:p.Met2188Val | |
| NM_001354899.1:c.6553A>G | NP_001341828.1:p.Met2185Val | |
| NM_001354900.1:c.6514A>G | NP_001341829.1:p.Met2172Val | |
| NM_001354901.1:c.6460A>G | NP_001341830.1:p.Met2154Val | |
| NM_001354902.1:c.6364A>G | NP_001341831.1:p.Met2122Val | |
| NM_001354903.1:c.6334A>G | NP_001341832.1:p.Met2112Val | |
| NM_001354904.1:c.6259A>G | NP_001341833.1:p.Met2087Val | |
| NM_001354905.1:c.6157A>G | NP_001341834.1:p.Met2053Val | |
| NM_001354906.1:c.5788A>G | NP_001341835.1:p.Met1930Val | |
| NM_000038.6:c.6637A>G MANE Select | NP_000029.2:p.Met2213Val | |
| NM_001127510.3:c.6637A>G | NP_001120982.1:p.Met2213Val | |
| NM_001127511.3:c.6583A>G | NP_001120983.2:p.Met2195Val | |
| NM_001354895.2:c.6637A>G | NP_001341824.1:p.Met2213Val | |
| NM_001354896.2:c.6691A>G | NP_001341825.1:p.Met2231Val | |
| NM_001354897.2:c.6667A>G | NP_001341826.1:p.Met2223Val | |
| NM_001354898.2:c.6562A>G | NP_001341827.1:p.Met2188Val | |
| NM_001354899.2:c.6553A>G | NP_001341828.1:p.Met2185Val | |
| NM_001354900.2:c.6514A>G | NP_001341829.1:p.Met2172Val | |
| NM_001354901.2:c.6460A>G | NP_001341830.1:p.Met2154Val | |
| NM_001354902.2:c.6364A>G | NP_001341831.1:p.Met2122Val | |
| NM_001354903.2:c.6334A>G | NP_001341832.1:p.Met2112Val | |
| NM_001354904.2:c.6259A>G | NP_001341833.1:p.Met2087Val | |
| NM_001354905.2:c.6157A>G | NP_001341834.1:p.Met2053Val | |
| NM_001354906.2:c.5788A>G | NP_001341835.1:p.Met1930Val |