Linked Data
ClinVar Variation Id:
213287
dbSNP Id:
rs150735582
ExAC:
5:127697490 C / T
gnomAD v2:
5-127697490-C-T
gnomAD v3:
5-128361797-C-T
gnomAD v4:
5-128361797-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128361797C>T , CM000667.2:g.128361797C>T | GRCh38 |
| NC_000005.9:g.127697490C>T , CM000667.1:g.127697490C>T | GRCh37 |
| NC_000005.8:g.127725389C>T | NCBI36 |
| NG_008750.1:g.181246G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262464.9:c.2480G>A MANE Select | ENSP00000262464.4:p.Arg827Gln | |
| ENST00000262464.8:c.2480G>A | ENSP00000262464.4:p.Arg827Gln | |
| ENST00000508053.5:c.2480G>A | ENSP00000424571.1:p.Arg827Gln | |
| ENST00000508989.5:c.2381G>A | ENSP00000425596.1:p.Arg794Gln | |
| ENST00000619499.4:c.2477G>A | ENSP00000482132.1:p.Arg826Gln | |
| NM_001999.3:c.2480G>A | NP_001990.2:p.Arg827Gln | |
| XM_017009228.2:c.2327G>A | XP_016864717.1:p.Arg776Gln | |
| NM_001999.4:c.2480G>A MANE Select | NP_001990.2:p.Arg827Gln |