Linked Data
ClinVar Variation Id:
213375
dbSNP Id:
rs753753954
ExAC:
5:127595388 C / T
gnomAD v2:
5-127595388-C-T
gnomAD v3:
5-128259696-C-T
gnomAD v4:
5-128259696-C-T
COSMIC:
COSM50534
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128259696C>T , CM000667.2:g.128259696C>T | GRCh38 |
| NC_000005.9:g.127595388C>T , CM000667.1:g.127595388C>T | GRCh37 |
| NC_000005.8:g.127623287C>T | NCBI36 |
| NG_008750.1:g.283348G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262464.9:c.8498G>A MANE Select | ENSP00000262464.4:p.Arg2833His | |
| ENST00000262464.8:c.8498G>A | ENSP00000262464.4:p.Arg2833His | |
| ENST00000508053.5:c.8498G>A | ENSP00000424571.1:p.Arg2833His | |
| ENST00000619499.4:c.8495G>A | ENSP00000482132.1:p.Arg2832His | |
| NM_001999.3:c.8498G>A | NP_001990.2:p.Arg2833His | |
| XM_017009228.2:c.8345G>A | XP_016864717.1:p.Arg2782His | |
| NM_001999.4:c.8498G>A MANE Select | NP_001990.2:p.Arg2833His |