Linked Data
ClinVar Variation Id:
389867
dbSNP Id:
rs767932789
ExAC:
5:127640757 C / T
gnomAD v2:
5-127640757-C-T
gnomAD v3:
5-128305065-C-T
gnomAD v4:
5-128305065-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128305065C>T , CM000667.2:g.128305065C>T | GRCh38 |
| NC_000005.9:g.127640757C>T , CM000667.1:g.127640757C>T | GRCh37 |
| NC_000005.8:g.127668656C>T | NCBI36 |
| NG_008750.1:g.237979G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.2476G>A | ||
| ENST00000703785.1:n.2395G>A | ||
| ENST00000262464.9:c.5692G>A MANE Select | ENSP00000262464.4:p.Glu1898Lys | |
| ENST00000262464.8:c.5692G>A | ENSP00000262464.4:p.Glu1898Lys | |
| ENST00000508053.5:c.5692G>A | ENSP00000424571.1:p.Glu1898Lys | |
| ENST00000619499.4:c.5689G>A | ENSP00000482132.1:p.Glu1897Lys | |
| NM_001999.3:c.5692G>A | NP_001990.2:p.Glu1898Lys | |
| XM_017009228.2:c.5539G>A | XP_016864717.1:p.Glu1847Lys | |
| NM_001999.4:c.5692G>A MANE Select | NP_001990.2:p.Glu1898Lys |