Linked Data
ClinVar Variation Id:
213355
dbSNP Id:
rs863223586
gnomAD v2:
5-127615965-G-A
gnomAD v3:
5-128280273-G-A
gnomAD v4:
5-128280273-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128280273G>A , CM000667.2:g.128280273G>A | GRCh38 |
| NC_000005.9:g.127615965G>A , CM000667.1:g.127615965G>A | GRCh37 |
| NC_000005.8:g.127643864G>A | NCBI36 |
| NG_008750.1:g.262771C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.3841C>T | ||
| ENST00000262464.9:c.7057C>T MANE Select | ENSP00000262464.4:p.Arg2353Cys | |
| ENST00000262464.8:c.7057C>T | ENSP00000262464.4:p.Arg2353Cys | |
| ENST00000508053.5:c.7057C>T | ENSP00000424571.1:p.Arg2353Cys | |
| ENST00000619499.4:c.7054C>T | ENSP00000482132.1:p.Arg2352Cys | |
| NM_001999.3:c.7057C>T | NP_001990.2:p.Arg2353Cys | |
| XM_017009228.2:c.6904C>T | XP_016864717.1:p.Arg2302Cys | |
| NM_001999.4:c.7057C>T MANE Select | NP_001990.2:p.Arg2353Cys |