Linked Data
ClinVar Variation Id:
213305
dbSNP Id:
rs202050092
ExAC:
5:127680124 C / T
gnomAD v2:
5-127680124-C-T
gnomAD v3:
5-128344432-C-T
gnomAD v4:
5-128344432-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128344432C>T , CM000667.2:g.128344432C>T | GRCh38 |
| NC_000005.9:g.127680124C>T , CM000667.1:g.127680124C>T | GRCh37 |
| NC_000005.8:g.127708023C>T | NCBI36 |
| NG_008750.1:g.198612G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262464.9:c.3296G>A MANE Select | ENSP00000262464.4:p.Arg1099His | |
| ENST00000262464.8:c.3296G>A | ENSP00000262464.4:p.Arg1099His | |
| ENST00000508053.5:c.3296G>A | ENSP00000424571.1:p.Arg1099His | |
| ENST00000508989.5:c.3197G>A | ENSP00000425596.1:p.Arg1066His | |
| ENST00000619499.4:c.3293G>A | ENSP00000482132.1:p.Arg1098His | |
| NM_001999.3:c.3296G>A | NP_001990.2:p.Arg1099His | |
| XM_017009228.2:c.3143G>A | XP_016864717.1:p.Arg1048His | |
| NM_001999.4:c.3296G>A MANE Select | NP_001990.2:p.Arg1099His |