Linked Data
ClinVar Variation Id:
263964
dbSNP Id:
rs886038992
gnomAD v2:
5-127622433-C-T
gnomAD v3:
5-128286741-C-T
gnomAD v4:
5-128286741-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128286741C>T , CM000667.2:g.128286741C>T | GRCh38 |
| NC_000005.9:g.127622433C>T , CM000667.1:g.127622433C>T | GRCh37 |
| NC_000005.8:g.127650332C>T | NCBI36 |
| NG_008750.1:g.256303G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.3773G>A | ||
| ENST00000262464.9:c.6989G>A MANE Select | ENSP00000262464.4:p.Arg2330Lys | |
| ENST00000262464.8:c.6989G>A | ENSP00000262464.4:p.Arg2330Lys | |
| ENST00000508053.5:c.6989G>A | ENSP00000424571.1:p.Arg2330Lys | |
| ENST00000619499.4:c.6986G>A | ENSP00000482132.1:p.Arg2329Lys | |
| NM_001999.3:c.6989G>A | NP_001990.2:p.Arg2330Lys | |
| XM_017009228.2:c.6836G>A | XP_016864717.1:p.Arg2279Lys | |
| NM_001999.4:c.6989G>A MANE Select | NP_001990.2:p.Arg2330Lys |