Linked Data
ClinVar Variation Id:
652853
ClinVar RCV Id:
RCV000808505
dbSNP Id:
rs1241363420
gnomAD v2:
1-6529213-T-G
gnomAD v4:
1-6469153-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.6469153T>G , CM000663.2:g.6469153T>G | GRCh38 |
| NC_000001.10:g.6529213T>G , CM000663.1:g.6529213T>G | GRCh37 |
| NC_000001.9:g.6451800T>G | NCBI36 |
| NG_007978.1:g.55857A>C , LRG_262:g.55857A>C | |
| NG_029910.1:g.2043A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340850.10:c.2138A>C | ENSP00000344570.5:p.Glu713Ala | |
| ENST00000377728.8:c.2138A>C MANE Select | ENSP00000366957.3:p.Glu713Ala | |
| ENST00000377740.5:c.2138A>C | ENSP00000366969.4:p.Glu713Ala | |
| ENST00000377748.6:c.2312A>C | ENSP00000366977.2:p.Glu771Ala | |
| ENST00000400913.6:c.2138A>C | ENSP00000383704.1:p.Glu713Ala | |
| ENST00000400915.8:c.2249A>C | ENSP00000383706.4:p.Glu750Ala | |
| ENST00000489097.6:n.2614A>C | ||
| ENST00000535355.6:c.2345A>C | ENSP00000441445.1:p.Glu782Ala | |
| ENST00000537245.6:c.2249A>C | ENSP00000439625.2:p.Glu750Ala | |
| ENST00000673471.2:c.2435A>C | ENSP00000500749.1:p.Glu812Ala | |
| ENST00000674790.1:c.*2350A>C | ENSP00000502815.1:n.*2350A>C | |
| ENST00000675123.1:c.2138A>C | ENSP00000502132.1:p.Glu713Ala | |
| ENST00000675139.1:n.209A>C | ||
| ENST00000675548.1:c.*1966A>C | ENSP00000502684.1:n.*1966A>C | |
| ENST00000675694.1:c.2138A>C | ENSP00000501925.1:p.Glu713Ala | |
| ENST00000675976.1:c.11A>C | ENSP00000501611.1:p.Glu4Ala | |
| ENST00000340850.9:c.2138A>C | ENSP00000344570.5:p.Glu713Ala | |
| ENST00000377725.5:c.2138A>C | ENSP00000366954.1:p.Glu713Ala | |
| ENST00000377728.7:c.2138A>C | ENSP00000366957.3:p.Glu713Ala | |
| ENST00000377732.5:c.2249A>C | ENSP00000366961.1:p.Glu750Ala | |
| ENST00000377740.4:c.2369A>C | ENSP00000366969.3:p.Glu790Ala | |
| ENST00000377748.5:c.2369A>C | ENSP00000366977.1:p.Glu790Ala | |
| ENST00000400913.5:c.2138A>C | ENSP00000383704.1:p.Glu713Ala | |
| ENST00000400915.7:c.2306A>C | ENSP00000383706.3:p.Glu769Ala | |
| ENST00000487949.4:n.1340A>C | ||
| ENST00000489097.5:n.2614A>C | ||
| ENST00000535355.5:c.2345A>C | ENSP00000441445.1:p.Glu782Ala | |
| ENST00000537245.5:c.2375A>C | ENSP00000439625.1:p.Glu792Ala | |
| NM_001042663.1:c.2306A>C | NP_001036128.1:p.Glu769Ala | |
| NM_001042664.1:c.2138A>C | NP_001036129.1:p.Glu713Ala | |
| NM_001042665.1:c.2138A>C | NP_001036130.1:p.Glu713Ala | |
| NM_001265592.1:c.2375A>C | NP_001252521.1:p.Glu792Ala | |
| NM_001265593.1:c.2345A>C | NP_001252522.1:p.Glu782Ala | |
| NM_001265594.1:c.2138A>C | NP_001252523.1:p.Glu713Ala | |
| NM_020631.4:c.2138A>C | NP_065682.2:p.Glu713Ala | |
| NM_198681.3:c.2369A>C | NP_941374.2:p.Glu790Ala | |
| NM_001042663.2:c.2306A>C | NP_001036128.1:p.Glu769Ala | |
| NM_001265594.2:c.2138A>C | NP_001252523.1:p.Glu713Ala | |
| NM_020631.5:c.2138A>C | NP_065682.2:p.Glu713Ala | |
| NM_001042663.3:c.2249A>C | NP_001036128.2:p.Glu750Ala | |
| NM_001265592.2:c.2249A>C | NP_001252521.2:p.Glu750Ala | |
| NM_020631.6:c.2138A>C MANE Select | NP_065682.2:p.Glu713Ala | |
| NM_198681.4:c.2138A>C | NP_941374.3:p.Glu713Ala |