Linked Data
dbSNP Id:
rs1462329568
gnomAD v2:
5-10256080-C-G
gnomAD v3:
5-10255968-C-G
gnomAD v4:
5-10255968-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.10255968C>G , CM000667.2:g.10255968C>G | GRCh38 |
| NC_000005.9:g.10256080C>G , CM000667.1:g.10256080C>G | GRCh37 |
| NC_000005.8:g.10309080C>G | NCBI36 |
| NG_012160.1:g.10799C>G , LRG_361:g.10799C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000280326.9:c.345C>G MANE Select | ENSP00000280326.4:p.Ala115= | |
| ENST00000280326.8:c.345C>G | ENSP00000280326.4:p.Ala115= | |
| ENST00000423695.6:n.128-2143C>G | ||
| ENST00000503026.5:c.282C>G | ENSP00000423318.1:p.Ala94= | |
| ENST00000503454.5:c.234C>G | ||
| ENST00000506600.1:c.66C>G | ENSP00000423052.1:p.Ala22= | |
| ENST00000511700.1:c.260C>G | ENSP00000423087.1:p.Pro87Arg | |
| ENST00000512975.5:c.106-2143C>G | ENSP00000425751.1:n.106-2143C>G | |
| ENST00000515390.5:c.180C>G | ENSP00000426923.1:p.Ala60= | |
| ENST00000515676.5:c.231C>G | ENSP00000427297.1:p.Ala77= | |
| ENST00000625723.1:c.106-2143C>G | ENSP00000487128.1:n.106-2143C>G | |
| NM_001306153.1:c.282C>G | NP_001293082.1:p.Ala94= | |
| NM_001306154.1:c.180C>G | NP_001293083.1:p.Ala60= | |
| NM_001306155.1:c.66C>G | NP_001293084.1:p.Ala22= | |
| NM_001306156.1:c.231C>G | NP_001293085.1:p.Ala77= | |
| NM_012073.3:c.345C>G , LRG_361t1:c.345C>G | NP_036205.1:p.Ala115= | |
| NM_012073.4:c.345C>G | NP_036205.1:p.Ala115= | |
| NM_012073.5:c.345C>G MANE Select | NP_036205.1:p.Ala115= | |
| NM_001306154.2:c.180C>G | NP_001293083.1:p.Ala60= | |
| NM_001306155.2:c.66C>G | NP_001293084.1:p.Ala22= | |
| NM_001306156.2:c.231C>G | NP_001293085.1:p.Ala77= |