Linked Data
dbSNP Id:
rs754908383
ExAC:
10:115803989 T / G
gnomAD v3:
10-114044230-T-G
gnomAD v4:
10-114044230-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.114044230T>G , CM000672.2:g.114044230T>G | GRCh38 |
| NC_000010.10:g.115803989T>G , CM000672.1:g.115803989T>G | GRCh37 |
| NC_000010.9:g.115793979T>G | NCBI36 |
| NG_012187.1:g.5184T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369295.4:c.98T>G MANE Select | ENSP00000358301.2:p.Leu33Arg | |
| ENST00000369295.3:c.98T>G | ENSP00000358301.2:p.Leu33Arg | |
| NM_000684.2:c.98T>G | NP_000675.1:p.Leu33Arg | |
| NM_000684.3:c.98T>G MANE Select | NP_000675.1:p.Leu33Arg |