Linked Data
dbSNP Id:
rs747317758
ExAC:
5:10256082 T / C
gnomAD v2:
5-10256082-T-C
gnomAD v4:
5-10255970-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.10255970T>C , CM000667.2:g.10255970T>C | GRCh38 |
| NC_000005.9:g.10256082T>C , CM000667.1:g.10256082T>C | GRCh37 |
| NC_000005.8:g.10309082T>C | NCBI36 |
| NG_012160.1:g.10801T>C , LRG_361:g.10801T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000280326.9:c.347T>C MANE Select | ENSP00000280326.4:p.Leu116Ser | |
| ENST00000280326.8:c.347T>C | ENSP00000280326.4:p.Leu116Ser | |
| ENST00000423695.6:n.128-2141T>C | ||
| ENST00000503026.5:c.284T>C | ENSP00000423318.1:p.Leu95Ser | |
| ENST00000503454.5:c.236T>C | ||
| ENST00000506600.1:c.68T>C | ENSP00000423052.1:p.Leu23Ser | |
| ENST00000511700.1:c.262T>C | ENSP00000423087.1:p.Cys88Arg | |
| ENST00000512975.5:c.106-2141T>C | ENSP00000425751.1:n.106-2141T>C | |
| ENST00000515390.5:c.182T>C | ENSP00000426923.1:p.Leu61Ser | |
| ENST00000515676.5:c.233T>C | ENSP00000427297.1:p.Leu78Ser | |
| ENST00000625723.1:c.106-2141T>C | ENSP00000487128.1:n.106-2141T>C | |
| NM_001306153.1:c.284T>C | NP_001293082.1:p.Leu95Ser | |
| NM_001306154.1:c.182T>C | NP_001293083.1:p.Leu61Ser | |
| NM_001306155.1:c.68T>C | NP_001293084.1:p.Leu23Ser | |
| NM_001306156.1:c.233T>C | NP_001293085.1:p.Leu78Ser | |
| NM_012073.3:c.347T>C , LRG_361t1:c.347T>C | NP_036205.1:p.Leu116Ser | |
| NM_012073.4:c.347T>C | NP_036205.1:p.Leu116Ser | |
| NM_012073.5:c.347T>C MANE Select | NP_036205.1:p.Leu116Ser | |
| NM_001306154.2:c.182T>C | NP_001293083.1:p.Leu61Ser | |
| NM_001306155.2:c.68T>C | NP_001293084.1:p.Leu23Ser | |
| NM_001306156.2:c.233T>C | NP_001293085.1:p.Leu78Ser |