Linked Data
dbSNP Id:
rs778328116
ExAC:
11:22646971 A / C
gnomAD v2:
11-22646971-A-C
gnomAD v4:
11-22625425-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22625425A>C , CM000673.2:g.22625425A>C | GRCh38 |
| NC_000011.9:g.22646971A>C , CM000673.1:g.22646971A>C | GRCh37 |
| NC_000011.8:g.22603547A>C | NCBI36 |
| NG_007425.1:g.5417T>G , LRG_527:g.5417T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327470.6:c.386T>G MANE Select | ENSP00000330875.3:p.Leu129Arg | |
| ENST00000327470.4:c.386T>G | ENSP00000330875.3:p.Leu129Arg | |
| NM_022725.3:c.386T>G , LRG_527t1:c.386T>G | NP_073562.1:p.Leu129Arg | |
| NM_022725.4:c.386T>G MANE Select | NP_073562.1:p.Leu129Arg |