Linked Data
ClinVar Variation Id:
472487
dbSNP Id:
rs1378409559
gnomAD v3:
3-49131716-C-T
gnomAD v4:
3-49131716-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49131716C>T , CM000665.2:g.49131716C>T | GRCh38 |
| NC_000003.11:g.49169149C>T , CM000665.1:g.49169149C>T | GRCh37 |
| NC_000003.10:g.49144153C>T | NCBI36 |
| NG_008094.1:g.6451G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305544.9:c.467G>A MANE Select | ENSP00000307156.4:p.Arg156His | |
| ENST00000305544.8:c.467G>A | ENSP00000307156.4:p.Arg156His | |
| ENST00000418109.5:c.467G>A | ENSP00000388325.1:p.Arg156His | |
| ENST00000494831.1:c.20G>A | ENSP00000444751.1:p.Arg7His | |
| NM_002292.3:c.467G>A | NP_002283.3:p.Arg156His | |
| XM_005265127.3:c.467G>A | XP_005265184.1:p.Arg156His | |
| XM_005265127.4:c.467G>A | XP_005265184.1:p.Arg156His | |
| NM_002292.4:c.467G>A MANE Select | NP_002283.3:p.Arg156His |