Linked Data
ClinVar Variation Id:
411821
dbSNP Id:
rs370973542
ExAC:
5:127686655 C / T
gnomAD v2:
5-127686655-C-T
gnomAD v3:
5-128350963-C-T
gnomAD v4:
5-128350963-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128350963C>T , CM000667.2:g.128350963C>T | GRCh38 |
| NC_000005.9:g.127686655C>T , CM000667.1:g.127686655C>T | GRCh37 |
| NC_000005.8:g.127714554C>T | NCBI36 |
| NG_008750.1:g.192081G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262464.9:c.2717G>A MANE Select | ENSP00000262464.4:p.Arg906His | |
| ENST00000262464.8:c.2717G>A | ENSP00000262464.4:p.Arg906His | |
| ENST00000508053.5:c.2717G>A | ENSP00000424571.1:p.Arg906His | |
| ENST00000508989.5:c.2618G>A | ENSP00000425596.1:p.Arg873His | |
| ENST00000619499.4:c.2714G>A | ENSP00000482132.1:p.Arg905His | |
| NM_001999.3:c.2717G>A | NP_001990.2:p.Arg906His | |
| XM_017009228.2:c.2564G>A | XP_016864717.1:p.Arg855His | |
| NM_001999.4:c.2717G>A MANE Select | NP_001990.2:p.Arg906His |