Linked Data
dbSNP Id:
rs867098016
gnomAD v2:
5-54529026-C-A
gnomAD v3:
5-55233198-C-A
gnomAD v4:
5-55233198-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55233198C>A , CM000667.2:g.55233198C>A | GRCh38 |
| NC_000005.9:g.54529026C>A , CM000667.1:g.54529026C>A | GRCh37 |
| NC_000005.8:g.54564783C>A | NCBI36 |
| NG_034201.1:g.5520G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282572.5:c.326G>T MANE Select | ENSP00000282572.4:p.Arg109Leu | |
| ENST00000282572.4:c.326G>T | ENSP00000282572.4:p.Arg109Leu | |
| ENST00000501463.2:c.326G>T | ENSP00000422485.1:p.Arg109Leu | |
| NM_021147.4:c.326G>T | NP_066970.3:p.Arg109Leu | |
| NR_125346.1:n.520G>T | ||
| NR_125347.1:n.520G>T | ||
| NM_021147.5:c.326G>T MANE Select | NP_066970.3:p.Arg109Leu | |
| NR_125346.2:n.411G>T | ||
| NR_125347.2:n.411G>T |