Linked Data
dbSNP Id:
rs764037204
ExAC:
5:10256202 T / C
gnomAD v2:
5-10256202-T-C
gnomAD v4:
5-10256090-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.10256090T>C , CM000667.2:g.10256090T>C | GRCh38 |
| NC_000005.9:g.10256202T>C , CM000667.1:g.10256202T>C | GRCh37 |
| NC_000005.8:g.10309202T>C | NCBI36 |
| NG_012160.1:g.10921T>C , LRG_361:g.10921T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000280326.9:c.467T>C MANE Select | ENSP00000280326.4:p.Leu156Pro | |
| ENST00000280326.8:c.467T>C | ENSP00000280326.4:p.Leu156Pro | |
| ENST00000423695.6:n.128-2021T>C | ||
| ENST00000503026.5:c.404T>C | ENSP00000423318.1:p.Leu135Pro | |
| ENST00000503454.5:c.356T>C | ||
| ENST00000506600.1:c.188T>C | ENSP00000423052.1:p.Leu63Pro | |
| ENST00000511700.1:c.382T>C | ENSP00000423087.1:n.382T>C | |
| ENST00000512975.5:c.106-2021T>C | ENSP00000425751.1:n.106-2021T>C | |
| ENST00000515390.5:c.302T>C | ENSP00000426923.1:p.Leu101Pro | |
| ENST00000515676.5:c.353T>C | ENSP00000427297.1:p.Leu118Pro | |
| ENST00000625723.1:c.106-2021T>C | ENSP00000487128.1:n.106-2021T>C | |
| NM_001306153.1:c.404T>C | NP_001293082.1:p.Leu135Pro | |
| NM_001306154.1:c.302T>C | NP_001293083.1:p.Leu101Pro | |
| NM_001306155.1:c.188T>C | NP_001293084.1:p.Leu63Pro | |
| NM_001306156.1:c.353T>C | NP_001293085.1:p.Leu118Pro | |
| NM_012073.3:c.467T>C , LRG_361t1:c.467T>C | NP_036205.1:p.Leu156Pro | |
| NM_012073.4:c.467T>C | NP_036205.1:p.Leu156Pro | |
| NM_012073.5:c.467T>C MANE Select | NP_036205.1:p.Leu156Pro | |
| NM_001306154.2:c.302T>C | NP_001293083.1:p.Leu101Pro | |
| NM_001306155.2:c.188T>C | NP_001293084.1:p.Leu63Pro | |
| NM_001306156.2:c.353T>C | NP_001293085.1:p.Leu118Pro |