Linked Data
ClinVar Variation Id:
2207969
ClinVar RCV Id:
RCV004069997
dbSNP Id:
rs145557631
ExAC:
15:75047161 G / T
gnomAD v2:
15-75047161-G-T
gnomAD v3:
15-74754820-G-T
gnomAD v4:
15-74754820-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74754820G>T , CM000677.2:g.74754820G>T | GRCh38 |
| NC_000015.9:g.75047161G>T , CM000677.1:g.75047161G>T | GRCh37 |
| NC_000015.8:g.72834214G>T | NCBI36 |
| NG_008431.1:g.37279G>T | |
| NG_008431.2:g.37279G>T | |
| NG_061543.1:g.10976G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343932.5:c.1283G>T MANE Select | ENSP00000342007.4:p.Arg428Leu | |
| ENST00000343932.4:c.1283G>T | ENSP00000342007.4:p.Arg428Leu | |
| NM_000761.4:c.1283G>T | NP_000752.2:p.Arg428Leu | |
| NM_000761.5:c.1283G>T MANE Select | NP_000752.2:p.Arg428Leu |