Linked Data
ClinVar Variation Id:
411818
dbSNP Id:
rs775905979
ExAC:
5:127615964 C / T
gnomAD v2:
5-127615964-C-T
gnomAD v3:
5-128280272-C-T
gnomAD v4:
5-128280272-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128280272C>T , CM000667.2:g.128280272C>T | GRCh38 |
| NC_000005.9:g.127615964C>T , CM000667.1:g.127615964C>T | GRCh37 |
| NC_000005.8:g.127643863C>T | NCBI36 |
| NG_008750.1:g.262772G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.3842G>A | ||
| ENST00000262464.9:c.7058G>A MANE Select | ENSP00000262464.4:p.Arg2353His | |
| ENST00000262464.8:c.7058G>A | ENSP00000262464.4:p.Arg2353His | |
| ENST00000508053.5:c.7058G>A | ENSP00000424571.1:p.Arg2353His | |
| ENST00000619499.4:c.7055G>A | ENSP00000482132.1:p.Arg2352His | |
| NM_001999.3:c.7058G>A | NP_001990.2:p.Arg2353His | |
| XM_017009228.2:c.6905G>A | XP_016864717.1:p.Arg2302His | |
| NM_001999.4:c.7058G>A MANE Select | NP_001990.2:p.Arg2353His |