Linked Data
dbSNP Id:
rs1291153001
gnomAD v2:
5-10256013-A-G
gnomAD v3:
5-10255901-A-G
gnomAD v4:
5-10255901-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.10255901A>G , CM000667.2:g.10255901A>G | GRCh38 |
| NC_000005.9:g.10256013A>G , CM000667.1:g.10256013A>G | GRCh37 |
| NC_000005.8:g.10309013A>G | NCBI36 |
| NG_012160.1:g.10732A>G , LRG_361:g.10732A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000280326.9:c.332-54A>G MANE Select | ENSP00000280326.4:n.332-54A>G | |
| ENST00000280326.8:c.332-54A>G | ENSP00000280326.4:n.332-54A>G | |
| ENST00000423695.6:n.128-2210A>G | ||
| ENST00000503026.5:c.269-54A>G | ENSP00000423318.1:n.269-54A>G | |
| ENST00000503454.5:c.221-54A>G | ||
| ENST00000506600.1:c.53-54A>G | ENSP00000423052.1:n.53-54A>G | |
| ENST00000511700.1:c.247-54A>G | ENSP00000423087.1:n.247-54A>G | |
| ENST00000512975.5:c.106-2210A>G | ENSP00000425751.1:n.106-2210A>G | |
| ENST00000515390.5:c.167-54A>G | ENSP00000426923.1:n.167-54A>G | |
| ENST00000515676.5:c.218-54A>G | ENSP00000427297.1:n.218-54A>G | |
| ENST00000625723.1:c.106-2210A>G | ENSP00000487128.1:n.106-2210A>G | |
| NM_001306153.1:c.269-54A>G | NP_001293082.1:n.269-54A>G | |
| NM_001306154.1:c.167-54A>G | NP_001293083.1:n.167-54A>G | |
| NM_001306155.1:c.53-54A>G | NP_001293084.1:n.53-54A>G | |
| NM_001306156.1:c.218-54A>G | NP_001293085.1:n.218-54A>G | |
| NM_012073.3:c.332-54A>G , LRG_361t1:c.332-54A>G | NP_036205.1:n.332-54A>G | |
| NM_012073.4:c.332-54A>G | NP_036205.1:n.332-54A>G | |
| NM_012073.5:c.332-54A>G MANE Select | NP_036205.1:n.332-54A>G | |
| NM_001306154.2:c.167-54A>G | NP_001293083.1:n.167-54A>G | |
| NM_001306155.2:c.53-54A>G | NP_001293084.1:n.53-54A>G | |
| NM_001306156.2:c.218-54A>G | NP_001293085.1:n.218-54A>G |