Linked Data
dbSNP Id:
rs1040079
gnomAD v2:
6-163214027-A-G
gnomAD v3:
6-162792995-A-G
gnomAD v4:
6-162792995-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.162792995A>G , CM000668.2:g.162792995A>G | GRCh38 |
| NC_000006.11:g.163214027A>G , CM000668.1:g.163214027A>G | GRCh37 |
| NC_000006.10:g.163134017A>G | NCBI36 |
| NG_011525.1:g.70864A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366888.7:c.157-21152A>G MANE Select | ENSP00000355854.2:n.157-21152A>G | |
| ENST00000337019.7:c.157-21152A>G | ENSP00000337946.3:n.157-21152A>G | |
| ENST00000366888.6:c.157-21152A>G | ENSP00000355854.2:n.157-21152A>G | |
| ENST00000366889.6:c.157-21152A>G | ENSP00000355855.2:n.157-21152A>G | |
| ENST00000542669.1:n.416-21152A>G | ||
| ENST00000544266.1:n.393-21152A>G | ||
| NM_001080378.1:c.157-21152A>G | NP_001073847.1:n.157-21152A>G | |
| NM_001080379.1:c.157-21152A>G | NP_001073848.1:n.157-21152A>G | |
| NM_152410.2:c.157-21152A>G | NP_689623.2:n.157-21152A>G | |
| XM_005266824.3:c.157-21152A>G | XP_005266881.1:n.157-21152A>G | |
| XM_005266825.3:c.157-21152A>G | XP_005266882.1:n.157-21152A>G | |
| XM_005266826.3:c.157-21152A>G | XP_005266883.1:n.157-21152A>G | |
| XM_006715344.2:c.157-21152A>G | XP_006715407.1:n.157-21152A>G | |
| XM_006715345.2:c.157-21152A>G | XP_006715408.1:n.157-21152A>G | |
| XM_011535456.1:c.157-21152A>G | XP_011533758.1:n.157-21152A>G | |
| XM_011535457.1:c.157-21152A>G | XP_011533759.1:n.157-21152A>G | |
| XM_011535458.1:c.157-21152A>G | XP_011533760.1:n.157-21152A>G | |
| XM_011535459.1:c.157-21152A>G | XP_011533761.1:n.157-21152A>G | |
| XM_011535460.1:c.157-21152A>G | XP_011533762.1:n.157-21152A>G | |
| XM_011535461.1:c.157-21152A>G | XP_011533763.1:n.157-21152A>G | |
| XM_011535462.1:c.157-21152A>G | XP_011533764.1:n.157-21152A>G | |
| XM_011535463.1:c.157-21152A>G | XP_011533765.1:n.157-21152A>G | |
| XM_011535464.1:c.157-21152A>G | XP_011533766.1:n.157-21152A>G | |
| XM_011535465.1:c.157-21152A>G | XP_011533767.1:n.157-21152A>G | |
| XM_011535466.1:c.157-21152A>G | XP_011533768.1:n.157-21152A>G | |
| XM_011535467.1:c.157-21152A>G | XP_011533769.1:n.157-21152A>G | |
| XM_011535468.1:c.157-21152A>G | XP_011533770.1:n.157-21152A>G | |
| XM_011535469.1:c.157-21152A>G | XP_011533771.1:n.157-21152A>G | |
| XM_011535471.1:c.157-21152A>G | XP_011533773.1:n.157-21152A>G | |
| XM_011535472.1:c.157-21152A>G | XP_011533774.1:n.157-21152A>G | |
| XM_005266825.5:c.157-21152A>G | XP_005266882.1:n.157-21152A>G | |
| XM_005266826.5:c.157-21152A>G | XP_005266883.1:n.157-21152A>G | |
| XM_006715344.4:c.157-21152A>G | XP_006715407.1:n.157-21152A>G | |
| XM_006715345.4:c.157-21152A>G | XP_006715408.1:n.157-21152A>G | |
| XM_011535461.3:c.157-21152A>G | XP_011533763.1:n.157-21152A>G | |
| XM_011535462.3:c.157-21152A>G | XP_011533764.1:n.157-21152A>G | |
| XM_011535466.2:c.157-21152A>G | XP_011533768.1:n.157-21152A>G | |
| XM_011535468.3:c.157-21152A>G | XP_011533770.1:n.157-21152A>G | |
| XM_011535469.3:c.157-21152A>G | XP_011533771.1:n.157-21152A>G | |
| XM_011535471.2:c.157-21152A>G | XP_011533773.1:n.157-21152A>G | |
| XM_017010275.2:c.157-21152A>G | XP_016865764.1:n.157-21152A>G | |
| XM_017010276.2:c.157-21152A>G | XP_016865765.1:n.157-21152A>G | |
| XM_017010277.2:c.157-21152A>G | XP_016865766.1:n.157-21152A>G | |
| XM_017010278.2:c.157-21152A>G | XP_016865767.1:n.157-21152A>G | |
| XM_017010279.2:c.157-21152A>G | XP_016865768.1:n.157-21152A>G | |
| XM_017010280.2:c.157-21152A>G | XP_016865769.1:n.157-21152A>G | |
| NM_001080378.2:c.157-21152A>G | NP_001073847.1:n.157-21152A>G | |
| NM_001080379.2:c.157-21152A>G MANE Select | NP_001073848.1:n.157-21152A>G | |
| NM_152410.3:c.157-21152A>G | NP_689623.2:n.157-21152A>G |