Linked Data
ClinVar Variation Id:
202625
ClinVar RCV Id:
RCV000184512
RCV000318789
RCV000282780
RCV000355036
RCV000260211
RCV000322746
RCV000769024
RCV002390480
dbSNP Id:
rs794729427
gnomAD v2:
2-179498792-A-G
gnomAD v3:
2-178634065-A-G
gnomAD v4:
2-178634065-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178634065A>G , CM000664.2:g.178634065A>G | GRCh38 |
| NC_000002.11:g.179498792A>G , CM000664.1:g.179498792A>G | GRCh37 |
| NC_000002.10:g.179207037A>G | NCBI36 |
| NG_011618.3:g.201738T>C , LRG_391:g.201738T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.34730T>C | ENSP00000343764.6:p.Met11577Thr | |
| ENST00000342175.11:c.15815T>C | ENSP00000340554.6:p.Met5272Thr | |
| ENST00000359218.10:c.15614T>C | ENSP00000352154.5:p.Met5205Thr | |
| ENST00000342175.10:c.15815T>C | ENSP00000340554.6:p.Met5272Thr | |
| ENST00000342992.10:c.34730T>C | ENSP00000343764.6:p.Met11577Thr | |
| ENST00000359218.9:c.15614T>C | ENSP00000352154.5:p.Met5205Thr | |
| ENST00000460472.6:c.15239T>C | ENSP00000434586.1:p.Met5080Thr | |
| ENST00000589042.5:c.42434T>C MANE Select | ENSP00000467141.1:p.Met14145Thr | |
| ENST00000591111.5:c.37511T>C | ENSP00000465570.1:p.Met12504Thr | |
| ENST00000615779.4:c.37511T>C | ENSP00000483597.1:p.Met12504Thr | |
| NM_001256850.1:c.37511T>C | NP_001243779.1:p.Met12504Thr | |
| NM_001267550.2:c.42434T>C MANE Select | NP_001254479.2:p.Met14145Thr | |
| NM_003319.4:c.15239T>C | NP_003310.4:p.Met5080Thr | |
| NM_133378.4:c.34730T>C | NP_596869.4:p.Met11577Thr | |
| NM_133432.3:c.15614T>C | NP_597676.3:p.Met5205Thr | |
| NM_133437.4:c.15815T>C | NP_597681.4:p.Met5272Thr | |
| XM_011511729.1:c.41531T>C | XP_011510031.1:p.Met13844Thr | |
| XM_011511730.1:c.15425T>C | XP_011510032.1:p.Met5142Thr | |
| XM_011511731.1:c.15284T>C | XP_011510033.1:p.Met5095Thr | |
| XM_017004819.1:c.41327T>C | XP_016860308.1:p.Met13776Thr | |
| XM_017004820.1:c.36725T>C | XP_016860309.1:p.Met12242Thr | |
| XM_017004821.1:c.36722T>C | XP_016860310.1:p.Met12241Thr | |
| XM_017004822.1:c.33764T>C | XP_016860311.1:p.Met11255Thr | |
| XM_017004823.1:c.15380T>C | XP_016860312.1:p.Met5127Thr | |
| XM_024453094.1:c.36875T>C | XP_024308862.1:p.Met12292Thr | |
| XM_024453095.1:c.36872T>C | XP_024308863.1:p.Met12291Thr | |
| XM_024453096.1:c.36305T>C | XP_024308864.1:p.Met12102Thr | |
| XM_024453097.1:c.33647T>C | XP_024308865.1:p.Met11216Thr | |
| XM_024453098.1:c.33566T>C | XP_024308866.1:p.Met11189Thr | |
| XM_024453099.1:c.15329T>C | XP_024308867.1:p.Met5110Thr | |
| XM_024453100.1:c.5183T>C | XP_024308868.1:p.Met1728Thr |