Linked Data
ClinVar Variation Id:
519808
dbSNP Id:
rs922751471
gnomAD v2:
5-127670916-G-A
gnomAD v3:
5-128335224-G-A
gnomAD v4:
5-128335224-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128335224G>A , CM000667.2:g.128335224G>A | GRCh38 |
| NC_000005.9:g.127670916G>A , CM000667.1:g.127670916G>A | GRCh37 |
| NC_000005.8:g.127698815G>A | NCBI36 |
| NG_008750.1:g.207820C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.703C>T | ||
| ENST00000703785.1:n.784C>T | ||
| ENST00000262464.9:c.3919C>T MANE Select | ENSP00000262464.4:p.Arg1307Cys | |
| ENST00000262464.8:c.3919C>T | ENSP00000262464.4:p.Arg1307Cys | |
| ENST00000507835.5:c.469C>T | ENSP00000426839.1:p.Arg157Cys | |
| ENST00000508053.5:c.3919C>T | ENSP00000424571.1:p.Arg1307Cys | |
| ENST00000508989.5:c.3820C>T | ENSP00000425596.1:p.Arg1274Cys | |
| ENST00000619499.4:c.3916C>T | ENSP00000482132.1:p.Arg1306Cys | |
| NM_001999.3:c.3919C>T | NP_001990.2:p.Arg1307Cys | |
| XM_017009228.2:c.3766C>T | XP_016864717.1:p.Arg1256Cys | |
| NM_001999.4:c.3919C>T MANE Select | NP_001990.2:p.Arg1307Cys |