Linked Data
ClinVar Variation Id:
2398216
ClinVar RCV Id:
RCV004226916
dbSNP Id:
rs143185457
ExAC:
2:219900335 C / T
gnomAD v2:
2-219900335-C-T
gnomAD v3:
2-219035613-C-T
gnomAD v4:
2-219035613-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219035613C>T , CM000664.2:g.219035613C>T | GRCh38 |
| NC_000002.11:g.219900335C>T , CM000664.1:g.219900335C>T | GRCh37 |
| NC_000002.10:g.219608579C>T | NCBI36 |
| NG_051336.1:g.10939G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341552.10:c.409G>A MANE Select | ENSP00000340776.5:p.Val137Met | |
| ENST00000295729.6:c.214G>A | ENSP00000295729.2:p.Val72Met | |
| ENST00000341552.9:c.409G>A | ENSP00000340776.5:p.Val137Met | |
| ENST00000409865.7:c.376G>A | ENSP00000386945.3:p.Val126Met | |
| ENST00000410037.5:c.214G>A | ENSP00000386258.1:p.Val72Met | |
| ENST00000436631.5:c.214G>A | ENSP00000396836.1:p.Val72Met | |
| ENST00000441968.5:c.-1311G>A | ENSP00000413377.2:n.-1311G>A | |
| ENST00000453220.5:c.409G>A | ENSP00000409117.1:p.Val137Met | |
| ENST00000457968.5:c.376G>A | ENSP00000393483.1:p.Val126Met | |
| ENST00000458526.1:c.214G>A | ENSP00000413746.1:p.Val72Met | |
| ENST00000462848.5:n.391G>A | ||
| ENST00000463683.1:n.893G>A | ||
| NM_001278295.1:c.376G>A | NP_001265224.1:p.Val126Met | |
| NM_001278296.1:c.214G>A | NP_001265225.1:p.Val72Met | |
| NM_152389.3:c.214G>A | NP_689602.2:p.Val72Met | |
| NM_194302.3:c.409G>A | NP_919278.2:p.Val137Met | |
| XM_011510903.1:c.412G>A | XP_011509205.1:p.Val138Met | |
| XM_011510904.1:c.412G>A | XP_011509206.1:p.Val138Met | |
| XM_011510905.1:c.409G>A | XP_011509207.1:p.Val137Met | |
| XM_011510906.1:c.409G>A | XP_011509208.1:p.Val137Met | |
| XM_011510907.1:c.409G>A | XP_011509209.1:p.Val137Met | |
| XM_011510908.1:c.409G>A | XP_011509210.1:p.Val137Met | |
| XM_011510909.1:c.409G>A | XP_011509211.1:p.Val137Met | |
| XM_011510910.1:c.412G>A | XP_011509212.1:p.Val138Met | |
| XM_011510911.1:c.214G>A | XP_011509213.1:p.Val72Met | |
| XM_011510912.1:c.214G>A | XP_011509214.1:p.Val72Met | |
| XM_011510913.1:c.214G>A | XP_011509215.1:p.Val72Met | |
| XM_011510914.1:c.214G>A | XP_011509216.1:p.Val72Met | |
| XM_011510915.1:c.214G>A | XP_011509217.1:p.Val72Met | |
| XM_011510916.1:c.412G>A | XP_011509218.1:p.Val138Met | |
| XM_011510917.1:c.214G>A | XP_011509219.1:p.Val72Met | |
| XM_011510918.1:c.214G>A | XP_011509220.1:p.Val72Met | |
| XM_011510919.1:c.412G>A | XP_011509221.1:p.Val138Met | |
| XM_011510920.1:c.412G>A | XP_011509222.1:p.Val138Met | |
| XM_011510904.2:c.412G>A | XP_011509206.1:p.Val138Met | |
| XM_017003752.1:c.409G>A | XP_016859241.1:p.Val137Met | |
| XM_017003753.1:c.376G>A | XP_016859242.1:p.Val126Met | |
| XM_017003754.1:c.214G>A | XP_016859243.1:p.Val72Met | |
| XM_017003755.1:c.214G>A | XP_016859244.1:p.Val72Met | |
| NM_194302.4:c.409G>A MANE Select | NP_919278.2:p.Val137Met | |
| NM_001278296.2:c.214G>A | NP_001265225.1:p.Val72Met | |
| NM_152389.4:c.214G>A | NP_689602.2:p.Val72Met |