Linked Data
dbSNP Id:
rs1136949
ExAC:
6:29912297 A / G
gnomAD v2:
6-29912297-A-G
gnomAD v3:
6-29944520-A-G
gnomAD v4:
6-29944520-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.29944520A>G , CM000668.2:g.29944520A>G | GRCh38 |
| NC_000006.11:g.29912297A>G , CM000668.1:g.29912297A>G | GRCh37 |
| NC_000006.10:g.30020276A>G | NCBI36 |
| NG_029217.2:g.7056A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000638375.2:c.895+123A>G | ENSP00000492789.2:n.895+123A>G | |
| ENST00000706892.1:n.1872A>G | ||
| ENST00000706893.1:c.950A>G | ENSP00000516609.1:p.His317Arg | |
| ENST00000706894.1:c.916A>G | ENSP00000516610.1:p.Ile306Val | |
| ENST00000706895.1:n.1294A>G | ||
| ENST00000706896.1:n.1770A>G | ||
| ENST00000706897.1:n.1192A>G | ||
| ENST00000706898.1:c.916A>G | ENSP00000516611.1:p.Ile306Val | |
| ENST00000706899.1:n.1770A>G | ||
| ENST00000706900.1:c.832A>G | ENSP00000516617.1:p.Ile278Val | |
| ENST00000706901.1:c.916A>G | ENSP00000516612.1:p.Ile306Val | |
| ENST00000706902.1:c.916A>G | ENSP00000516613.1:p.Ile306Val | |
| ENST00000706903.1:c.916A>G | ENSP00000516614.1:p.Ile306Val | |
| ENST00000706904.1:c.916A>G | ENSP00000516615.1:p.Ile306Val | |
| ENST00000706905.1:c.916A>G | ENSP00000516616.1:p.Ile306Val | |
| ENST00000376809.10:c.916A>G MANE Select | ENSP00000366005.5:p.Ile306Val | |
| ENST00000638375.1:c.895+123A>G | ENSP00000492789.1:n.895+123A>G | |
| ENST00000376802.2:c.895+123A>G | ENSP00000365998.2:n.895+123A>G | |
| ENST00000376806.9:c.916A>G | ENSP00000366002.5:p.Ile306Val | |
| ENST00000376809.9:c.916A>G | ENSP00000366005.5:p.Ile306Val | |
| ENST00000396634.5:c.916A>G | ENSP00000379873.1:p.Ile306Val | |
| ENST00000461903.1:n.1157A>G | ||
| ENST00000479320.5:n.1157A>G | ||
| ENST00000495183.5:n.1159A>G | ||
| ENST00000496081.5:n.733A>G | ||
| NM_002116.7:c.916A>G | NP_002107.3:p.Ile306Val | |
| NM_002116.8:c.916A>G MANE Select | NP_002107.3:p.Ile306Val |