Linked Data
gnomAD v3:
6-29945247-C-A
gnomAD v4:
6-29945247-C-A
MyVariant Identifiers:
chr6:g.29913024C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.29945247C>A , CM000668.2:g.29945247C>A | GRCh38 |
| NC_000006.11:g.29913024C>A , CM000668.1:g.29913024C>A | GRCh37 |
| NC_000006.10:g.30021003C>A | NCBI36 |
| NG_029217.2:g.7783C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000638375.2:c.942C>A | ENSP00000492789.2:p.Ala314= | |
| ENST00000706892.1:n.2599C>A | ||
| ENST00000706893.1:c.*43C>A | ENSP00000516609.1:n.*43C>A | |
| ENST00000706894.1:c.1059C>A | ENSP00000516610.1:p.Ala353= | |
| ENST00000706895.1:n.1879C>A | ||
| ENST00000706896.1:n.2355C>A | ||
| ENST00000706897.1:n.1777C>A | ||
| ENST00000706898.1:c.1077C>A | ENSP00000516611.1:p.Ala359= | |
| ENST00000706899.1:n.1913C>A | ||
| ENST00000706900.1:c.975C>A | ENSP00000516617.1:p.Ala325= | |
| ENST00000706901.1:c.1059C>A | ENSP00000516612.1:p.Ala353= | |
| ENST00000706902.1:c.1059C>A | ENSP00000516613.1:p.Ala353= | |
| ENST00000706903.1:c.1059C>A | ENSP00000516614.1:p.Ala353= | |
| ENST00000706904.1:c.1059C>A | ENSP00000516615.1:p.Ala353= | |
| ENST00000706905.1:c.1059C>A | ENSP00000516616.1:p.Ala353= | |
| ENST00000376809.10:c.1059C>A MANE Select | ENSP00000366005.5:p.Ala353= | |
| ENST00000638375.1:c.942C>A | ENSP00000492789.1:p.Ala314= | |
| ENST00000376802.2:c.896-204C>A | ENSP00000365998.2:n.896-204C>A | |
| ENST00000376806.9:c.1077C>A | ENSP00000366002.5:p.Ala359= | |
| ENST00000376809.9:c.1059C>A | ENSP00000366005.5:p.Ala353= | |
| ENST00000396634.5:c.1059C>A | ENSP00000379873.1:p.Ala353= | |
| ENST00000461903.1:n.1318C>A | ||
| ENST00000479320.5:n.1300C>A | ||
| ENST00000495183.5:n.1298C>A | ||
| ENST00000496081.5:n.1318C>A | ||
| NM_002116.7:c.1059C>A | NP_002107.3:p.Ala353= | |
| NM_002116.8:c.1059C>A MANE Select | NP_002107.3:p.Ala353= |