Linked Data
ClinVar Variation Id:
2508198
ClinVar RCV Id:
RCV004283768
dbSNP Id:
rs1310655105
gnomAD v2:
15-65350945-C-T
gnomAD v4:
15-65058607-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.65058607C>T , CM000677.2:g.65058607C>T | GRCh38 |
| NC_000015.9:g.65350945C>T , CM000677.1:g.65350945C>T | GRCh37 |
| NC_000015.8:g.63137998C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220062.9:c.245G>A MANE Select | ENSP00000220062.4:p.Arg82Lys | |
| ENST00000220062.8:c.245G>A | ENSP00000220062.4:p.Arg82Lys | |
| ENST00000421977.7:c.188G>A | ENSP00000390028.3:p.Arg63Lys | |
| ENST00000434605.2:c.212G>A | ENSP00000412787.2:p.Arg71Lys | |
| NM_001307930.1:c.188G>A | NP_001294859.1:p.Arg63Lys | |
| NM_016563.2:c.245G>A | NP_057647.1:p.Arg82Lys | |
| NM_016563.3:c.245G>A | NP_057647.1:p.Arg82Lys | |
| XM_005254434.3:c.245G>A | XP_005254491.1:p.Arg82Lys | |
| XM_011521660.1:c.230G>A | XP_011519962.1:p.Arg77Lys | |
| XM_011521661.1:c.245G>A | XP_011519963.1:p.Arg82Lys | |
| XM_005254434.4:c.245G>A | XP_005254491.1:p.Arg82Lys | |
| XM_011521660.3:c.230G>A | XP_011519962.1:p.Arg77Lys | |
| XM_017022296.1:c.245G>A | XP_016877785.1:p.Arg82Lys | |
| NM_016563.4:c.245G>A MANE Select | NP_057647.1:p.Arg82Lys | |
| NM_001307930.2:c.188G>A | NP_001294859.1:p.Arg63Lys | |
| NM_001379429.1:c.212G>A | NP_001366358.1:p.Arg71Lys |