Linked Data
ClinVar Variation Id:
245766
dbSNP Id:
rs200728983
ExAC:
5:148386607 C / A
gnomAD v2:
5-148386607-C-A
gnomAD v3:
5-149007044-C-A
gnomAD v4:
5-149007044-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149007044C>A , CM000667.2:g.149007044C>A | GRCh38 |
| NC_000005.9:g.148386607C>A , CM000667.1:g.148386607C>A | GRCh37 |
| NC_000005.8:g.148366800C>A | NCBI36 |
| NG_007947.2:g.61131G>T , LRG_269:g.61131G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502274.2:c.4365G>T | ||
| ENST00000515425.6:c.3512G>T MANE Select | ENSP00000423660.1:p.Arg1171Leu | |
| ENST00000675793.1:c.*4569G>T | ENSP00000502039.1:n.*4569G>T | |
| ENST00000323829.9:c.*2900G>T | ENSP00000313025.5:n.*2900G>T | |
| ENST00000502274.1:c.98G>T | ENSP00000421092.1:p.Arg33Leu | |
| ENST00000504517.5:c.3034G>T | ENSP00000421779.1:n.3034G>T | |
| ENST00000504690.5:c.3512G>T | ENSP00000425627.1:p.Arg1171Leu | |
| ENST00000510350.1:n.68G>T | ||
| ENST00000510779.1:c.2562G>T | ||
| ENST00000512049.5:c.3491G>T | ENSP00000421860.1:p.Arg1164Leu | |
| ENST00000515229.5:n.174G>T | ||
| ENST00000515425.5:c.3512G>T | ENSP00000423660.1:p.Arg1171Leu | |
| NM_024577.3:c.3512G>T , LRG_269t1:c.3512G>T | NP_078853.2:p.Arg1171Leu | |
| NM_024577.4:c.3512G>T MANE Select | NP_078853.2:p.Arg1171Leu |