Linked Data
dbSNP Id:
rs776394000
ExAC:
21:45876886 T / C
gnomAD v2:
21-45876886-T-C
gnomAD v4:
21-44457003-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44457003T>C , CM000683.2:g.44457003T>C | GRCh38 |
| NC_000021.8:g.45876886T>C , CM000683.1:g.45876886T>C | GRCh37 |
| NC_000021.7:g.44701314T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291592.6:c.359T>C MANE Select | ENSP00000291592.4:p.Leu120Pro | |
| ENST00000291592.5:c.359T>C | ENSP00000291592.4:p.Leu120Pro | |
| NM_030891.4:c.359T>C | NP_112153.1:p.Leu120Pro | |
| NM_030891.5:c.359T>C | NP_112153.1:p.Leu120Pro | |
| NM_030891.6:c.359T>C MANE Select | NP_112153.1:p.Leu120Pro |