Linked Data
dbSNP Id:
rs11064768
gnomAD v2:
12-119818509-A-G
gnomAD v3:
12-119380704-A-G
gnomAD v4:
12-119380704-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.119380704A>G , CM000674.2:g.119380704A>G | GRCh38 |
| NC_000012.11:g.119818509A>G , CM000674.1:g.119818509A>G | GRCh37 |
| NC_000012.10:g.118302892A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000327554.3:c.90+45438A>G MANE Select | ENSP00000333374.2:n.90+45438A>G | |
| ENST00000327554.2:c.90+45438A>G | ENSP00000333374.2:n.90+45438A>G | |
| ENST00000535685.1:n.56+45438A>G | ||
| ENST00000536742.5:c.90+45438A>G | ENSP00000445505.1:n.90+45438A>G | |
| ENST00000539847.1:c.90+45438A>G | ENSP00000443403.1:n.90+45438A>G | |
| ENST00000546345.5:n.240+45438A>G | ||
| NM_178499.4:c.90+45438A>G | NP_848594.2:n.90+45438A>G | |
| XM_011538002.1:c.90+45438A>G | XP_011536304.1:n.90+45438A>G | |
| XM_011538003.1:c.90+45438A>G | XP_011536305.1:n.90+45438A>G | |
| XR_944504.1:n.338+45438A>G | ||
| XM_017018911.2:c.90+45438A>G | XP_016874400.1:n.90+45438A>G | |
| XM_017018912.2:c.90+45438A>G | XP_016874401.1:n.90+45438A>G | |
| XM_017018913.2:c.90+45438A>G | XP_016874402.1:n.90+45438A>G | |
| XR_944504.2:n.536+45438A>G | ||
| NM_178499.5:c.90+45438A>G MANE Select | NP_848594.2:n.90+45438A>G |