Linked Data
dbSNP Id:
rs41553916
ExAC:
6:29913099 G / A
gnomAD v2:
6-29913099-G-A
gnomAD v3:
6-29945322-G-A
gnomAD v4:
6-29945322-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.29945322G>A , CM000668.2:g.29945322G>A | GRCh38 |
| NC_000006.11:g.29913099G>A , CM000668.1:g.29913099G>A | GRCh37 |
| NC_000006.10:g.30021078G>A | NCBI36 |
| NG_029217.2:g.7858G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000638375.2:c.976+41G>A | ENSP00000492789.2:n.976+41G>A | |
| ENST00000706892.1:n.2674G>A | ||
| ENST00000706893.1:c.*77+41G>A | ENSP00000516609.1:n.*77+41G>A | |
| ENST00000706894.1:c.1134G>A | ENSP00000516610.1:p.Ala378= | |
| ENST00000706895.1:n.1954G>A | ||
| ENST00000706896.1:n.2389+41G>A | ||
| ENST00000706897.1:n.1811+41G>A | ||
| ENST00000706898.1:c.1111+41G>A | ENSP00000516611.1:n.1111+41G>A | |
| ENST00000706899.1:n.1947+41G>A | ||
| ENST00000706900.1:c.1009+41G>A | ENSP00000516617.1:n.1009+41G>A | |
| ENST00000706901.1:c.1093+41G>A | ENSP00000516612.1:n.1093+41G>A | |
| ENST00000706902.1:c.1093+41G>A | ENSP00000516613.1:n.1093+41G>A | |
| ENST00000706903.1:c.1093+41G>A | ENSP00000516614.1:n.1093+41G>A | |
| ENST00000706904.1:c.1093+41G>A | ENSP00000516615.1:n.1093+41G>A | |
| ENST00000706905.1:c.1093+41G>A | ENSP00000516616.1:n.1093+41G>A | |
| ENST00000376809.10:c.1093+41G>A MANE Select | ENSP00000366005.5:n.1093+41G>A | |
| ENST00000376802.2:c.896-129G>A | ENSP00000365998.2:n.896-129G>A | |
| ENST00000376806.9:c.1111+41G>A | ENSP00000366002.5:n.1111+41G>A | |
| ENST00000376809.9:c.1093+41G>A | ENSP00000366005.5:n.1093+41G>A | |
| ENST00000396634.5:c.1093+41G>A | ENSP00000379873.1:n.1093+41G>A | |
| ENST00000495183.5:n.1332+41G>A | ||
| ENST00000496081.5:n.1352+41G>A | ||
| NM_002116.7:c.1093+41G>A | NP_002107.3:n.1093+41G>A | |
| NM_002116.8:c.1093+41G>A MANE Select | NP_002107.3:n.1093+41G>A |