Linked Data
ClinVar Variation Id:
263966
dbSNP Id:
rs774483323
ExAC:
5:127685050 C / T
gnomAD v2:
5-127685050-C-T
gnomAD v3:
5-128349358-C-T
gnomAD v4:
5-128349358-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128349358C>T , CM000667.2:g.128349358C>T | GRCh38 |
| NC_000005.9:g.127685050C>T , CM000667.1:g.127685050C>T | GRCh37 |
| NC_000005.8:g.127712949C>T | NCBI36 |
| NG_008750.1:g.193686G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262464.9:c.2978G>A MANE Select | ENSP00000262464.4:p.Arg993His | |
| ENST00000262464.8:c.2978G>A | ENSP00000262464.4:p.Arg993His | |
| ENST00000508053.5:c.2978G>A | ENSP00000424571.1:p.Arg993His | |
| ENST00000508989.5:c.2879G>A | ENSP00000425596.1:p.Arg960His | |
| ENST00000619499.4:c.2975G>A | ENSP00000482132.1:p.Arg992His | |
| NM_001999.3:c.2978G>A | NP_001990.2:p.Arg993His | |
| XM_017009228.2:c.2825G>A | XP_016864717.1:p.Arg942His | |
| NM_001999.4:c.2978G>A MANE Select | NP_001990.2:p.Arg993His |