Linked Data
dbSNP Id:
rs894567797
gnomAD v2:
12-1828545-A-G
gnomAD v3:
12-1719379-A-G
gnomAD v4:
12-1719379-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.1719379A>G , CM000674.2:g.1719379A>G | GRCh38 |
| NC_000012.11:g.1828545A>G , CM000674.1:g.1828545A>G | GRCh37 |
| NC_000012.10:g.1698806A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357103.5:c.-87+28188A>G MANE Select | ENSP00000349616.4:n.-87+28188A>G | |
| ENST00000357103.4:c.-87+28188A>G | ENSP00000349616.4:n.-87+28188A>G | |
| ENST00000537545.1:n.144+30662A>G | ||
| ENST00000540974.1:n.149-11346A>G | ||
| NM_024551.2:c.-87+28188A>G | NP_078827.2:n.-87+28188A>G | |
| XM_005253789.1:c.-87+28166A>G | XP_005253846.1:n.-87+28166A>G | |
| XM_006719018.1:c.-87+16397A>G | XP_006719081.1:n.-87+16397A>G | |
| XM_011521024.1:c.-87+16397A>G | XP_011519326.1:n.-87+16397A>G | |
| XM_011521025.1:c.-87+28166A>G | XP_011519327.1:n.-87+28166A>G | |
| XM_005253789.2:c.-87+28166A>G | XP_005253846.1:n.-87+28166A>G | |
| XM_006719018.2:c.-87+16397A>G | XP_006719081.1:n.-87+16397A>G | |
| XM_011521024.2:c.-87+16397A>G | XP_011519326.1:n.-87+16397A>G | |
| NM_024551.3:c.-87+28188A>G MANE Select | NP_078827.2:n.-87+28188A>G | |
| NM_001375363.1:c.-87+28188A>G | NP_001362292.1:n.-87+28188A>G | |
| NM_001375364.1:c.-248-16700A>G | NP_001362293.1:n.-248-16700A>G | |
| NM_001375365.1:c.-87+28166A>G | NP_001362294.1:n.-87+28166A>G |