Linked Data
ClinVar Variation Id:
2702494
ClinVar RCV Id:
RCV003577375
gnomAD v4:
11-6617317-G-A
MyVariant Identifiers:
chr11:g.6638548G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6617317G>A , CM000673.2:g.6617317G>A | GRCh38 |
| NC_000011.9:g.6638548G>A , CM000673.1:g.6638548G>A | GRCh37 |
| NC_000011.8:g.6595124G>A | NCBI36 |
| NG_008653.1:g.7145C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.378C>T | ENSP00000507321.1:p.Ala126= | |
| ENST00000299427.12:c.492C>T MANE Select | ENSP00000299427.6:p.Ala164= | |
| ENST00000428886.7:n.580C>T | ||
| ENST00000436873.7:c.296C>T | ||
| ENST00000524788.2:n.1504C>T | ||
| ENST00000524903.2:n.1620C>T | ||
| ENST00000528571.6:c.*232C>T | ENSP00000434647.1:n.*232C>T | |
| ENST00000528807.2:n.148C>T | ||
| ENST00000530040.2:n.479+42C>T | ||
| ENST00000533371.6:c.-238C>T | ENSP00000437066.1:n.-238C>T | |
| ENST00000534644.6:n.456+37C>T | ||
| ENST00000642892.1:c.-222+37C>T | ENSP00000494165.1:n.-222+37C>T | |
| ENST00000643439.1:c.*232C>T | ENSP00000495849.1:n.*232C>T | |
| ENST00000643479.1:n.521C>T | ||
| ENST00000643516.1:c.379C>T | ||
| ENST00000644151.1:n.1784C>T | ||
| ENST00000644218.1:c.492C>T | ENSP00000493574.1:p.Ala164= | |
| ENST00000644683.1:c.450+42C>T | ENSP00000494085.1:n.450+42C>T | |
| ENST00000644810.1:c.230-164C>T | ENSP00000495895.1:n.230-164C>T | |
| ENST00000644831.1:n.521C>T | ||
| ENST00000644933.1:c.-238C>T | ENSP00000496133.1:n.-238C>T | |
| ENST00000645020.1:n.1520C>T | ||
| ENST00000645285.1:c.-238C>T | ENSP00000495058.1:n.-238C>T | |
| ENST00000645331.1:n.711C>T | ||
| ENST00000645620.1:c.-222+42C>T | ENSP00000493657.1:n.-222+42C>T | |
| ENST00000646777.1:n.521C>T | ||
| ENST00000647016.1:n.825C>T | ||
| ENST00000647152.1:c.-238C>T | ENSP00000495893.1:n.-238C>T | |
| ENST00000647209.1:c.*361C>T | ENSP00000495558.1:n.*361C>T | |
| ENST00000647346.1:n.1512C>T | ||
| ENST00000299427.10:c.492C>T | ENSP00000299427.6:p.Ala164= | |
| ENST00000428886.6:n.514C>T | ||
| ENST00000436873.6:c.450+42C>T | ENSP00000398136.2:n.450+42C>T | |
| ENST00000524788.1:n.45C>T | ||
| ENST00000528571.5:c.*232C>T | ENSP00000434647.1:n.*232C>T | |
| ENST00000533371.5:c.-238C>T | ENSP00000437066.1:n.-238C>T | |
| ENST00000534644.5:n.477C>T | ||
| ENST00000611494.4:c.492C>T | ENSP00000484546.1:p.Ala164= | |
| NM_000391.3:c.492C>T | NP_000382.3:p.Ala164= | |
| NM_000391.4:c.492C>T MANE Select | NP_000382.3:p.Ala164= |