Linked Data
ClinVar Variation Id:
990500
dbSNP Id:
rs148222726
ExAC:
11:6637971 G / A
gnomAD v2:
11-6637971-G-A
gnomAD v3:
11-6616740-G-A
gnomAD v4:
11-6616740-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6616740G>A , CM000673.2:g.6616740G>A | GRCh38 |
| NC_000011.9:g.6637971G>A , CM000673.1:g.6637971G>A | GRCh37 |
| NC_000011.8:g.6594547G>A | NCBI36 |
| NG_008653.1:g.7722C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.693C>T | ENSP00000507321.1:p.Ala231= | |
| ENST00000299427.12:c.807C>T MANE Select | ENSP00000299427.6:p.Ala269= | |
| ENST00000436873.7:c.312+561C>T | ||
| ENST00000524788.2:n.1966C>T | ||
| ENST00000524903.2:n.2082C>T | ||
| ENST00000528807.2:n.463C>T | ||
| ENST00000530040.2:n.480-237C>T | ||
| ENST00000533371.6:c.78C>T | ENSP00000437066.1:p.Ala26= | |
| ENST00000642892.1:c.78C>T | ENSP00000494165.1:p.Ala26= | |
| ENST00000643439.1:c.*547C>T | ENSP00000495849.1:n.*547C>T | |
| ENST00000643479.1:n.836C>T | ||
| ENST00000643516.1:c.396-237C>T | ||
| ENST00000644151.1:n.2246C>T | ||
| ENST00000644218.1:c.807C>T | ENSP00000493574.1:p.Ala269= | |
| ENST00000644683.1:c.*260C>T | ENSP00000494085.1:n.*260C>T | |
| ENST00000644810.1:c.528C>T | ENSP00000495895.1:p.Ala176= | |
| ENST00000644831.1:n.983C>T | ||
| ENST00000644933.1:c.78C>T | ENSP00000496133.1:p.Ala26= | |
| ENST00000645020.1:n.2097C>T | ||
| ENST00000645285.1:c.78C>T | ENSP00000495058.1:p.Ala26= | |
| ENST00000645331.1:n.1173C>T | ||
| ENST00000645620.1:c.78C>T | ENSP00000493657.1:p.Ala26= | |
| ENST00000646777.1:n.983C>T | ||
| ENST00000647016.1:n.1287C>T | ||
| ENST00000647152.1:c.78C>T | ENSP00000495893.1:p.Ala26= | |
| ENST00000647209.1:c.*676C>T | ENSP00000495558.1:n.*676C>T | |
| ENST00000647346.1:n.1827C>T | ||
| ENST00000299427.10:c.807C>T | ENSP00000299427.6:p.Ala269= | |
| ENST00000436873.6:c.451-237C>T | ENSP00000398136.2:n.451-237C>T | |
| ENST00000524788.1:n.507C>T | ||
| ENST00000528807.1:n.357C>T | ||
| ENST00000533371.5:c.78C>T | ENSP00000437066.1:p.Ala26= | |
| ENST00000611494.4:c.807C>T | ENSP00000484546.1:p.Ala269= | |
| NM_000391.3:c.807C>T | NP_000382.3:p.Ala269= | |
| NM_000391.4:c.807C>T MANE Select | NP_000382.3:p.Ala269= |