Linked Data
ClinVar Variation Id:
449577
dbSNP Id:
rs751600209
ExAC:
5:127673703 C / T
gnomAD v2:
5-127673703-C-T
gnomAD v3:
5-128338011-C-T
gnomAD v4:
5-128338011-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128338011C>T , CM000667.2:g.128338011C>T | GRCh38 |
| NC_000005.9:g.127673703C>T , CM000667.1:g.127673703C>T | GRCh37 |
| NC_000005.8:g.127701602C>T | NCBI36 |
| NG_008750.1:g.205033G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.368G>A | ||
| ENST00000703785.1:n.449G>A | ||
| ENST00000262464.9:c.3584G>A MANE Select | ENSP00000262464.4:p.Arg1195His | |
| ENST00000262464.8:c.3584G>A | ENSP00000262464.4:p.Arg1195His | |
| ENST00000507835.5:c.134G>A | ENSP00000426839.1:p.Arg45His | |
| ENST00000508053.5:c.3584G>A | ENSP00000424571.1:p.Arg1195His | |
| ENST00000508989.5:c.3485G>A | ENSP00000425596.1:p.Arg1162His | |
| ENST00000619499.4:c.3581G>A | ENSP00000482132.1:p.Arg1194His | |
| NM_001999.3:c.3584G>A | NP_001990.2:p.Arg1195His | |
| XM_017009228.2:c.3431G>A | XP_016864717.1:p.Arg1144His | |
| NM_001999.4:c.3584G>A MANE Select | NP_001990.2:p.Arg1195His |