Linked Data
dbSNP Id:
rs1561767561
gnomAD v2:
6-29913586-G-A
gnomAD v3:
6-29945809-G-A
gnomAD v4:
6-29945809-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.29945809G>A , CM000668.2:g.29945809G>A | GRCh38 |
| NC_000006.11:g.29913586G>A , CM000668.1:g.29913586G>A | GRCh37 |
| NC_000006.10:g.30021565G>A | NCBI36 |
| NG_029217.2:g.8345G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000638375.2:c.1335G>A | ENSP00000492789.2:n.1335G>A | |
| ENST00000706896.1:n.2748G>A | ||
| ENST00000706897.1:n.2170G>A | ||
| ENST00000706898.1:c.*354G>A | ENSP00000516611.1:n.*354G>A | |
| ENST00000706899.1:n.2306G>A | ||
| ENST00000706900.1:c.*354G>A | ENSP00000516617.1:n.*354G>A | |
| ENST00000706901.1:c.*354G>A | ENSP00000516612.1:n.*354G>A | |
| ENST00000706902.1:c.1093+528G>A | ENSP00000516613.1:n.1093+528G>A | |
| ENST00000706903.1:c.*124+230G>A | ENSP00000516614.1:n.*124+230G>A | |
| ENST00000706904.1:c.1093+528G>A | ENSP00000516615.1:n.1093+528G>A | |
| ENST00000706905.1:c.*354G>A | ENSP00000516616.1:n.*354G>A | |
| ENST00000376809.10:c.*354G>A MANE Select | ENSP00000366005.5:n.*354G>A | |
| ENST00000376802.2:c.*354G>A | ENSP00000365998.2:n.*354G>A | |
| ENST00000376806.9:c.*354G>A | ENSP00000366002.5:n.*354G>A | |
| ENST00000376809.9:c.*354G>A | ENSP00000366005.5:n.*354G>A | |
| ENST00000396634.5:c.*354G>A | ENSP00000379873.1:n.*354G>A | |
| ENST00000495183.5:n.1691G>A | ||
| ENST00000496081.5:n.1711G>A | ||
| NM_002116.7:c.*354G>A | NP_002107.3:n.*354G>A | |
| NM_002116.8:c.*354G>A MANE Select | NP_002107.3:n.*354G>A |