Linked Data
ClinVar Variation Id:
213428
dbSNP Id:
rs373994051
ExAC:
5:127599223 C / T
gnomAD v2:
5-127599223-C-T
gnomAD v3:
5-128263531-C-T
gnomAD v4:
5-128263531-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128263531C>T , CM000667.2:g.128263531C>T | GRCh38 |
| NC_000005.9:g.127599223C>T , CM000667.1:g.127599223C>T | GRCh37 |
| NC_000005.8:g.127627122C>T | NCBI36 |
| NG_008750.1:g.279513G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703782.1:n.201G>A | ||
| ENST00000262464.9:c.8086G>A MANE Select | ENSP00000262464.4:p.Val2696Met | |
| ENST00000262464.8:c.8086G>A | ENSP00000262464.4:p.Val2696Met | |
| ENST00000508053.5:c.8086G>A | ENSP00000424571.1:p.Val2696Met | |
| ENST00000619499.4:c.8083G>A | ENSP00000482132.1:p.Val2695Met | |
| NM_001999.3:c.8086G>A | NP_001990.2:p.Val2696Met | |
| XM_017009228.2:c.7933G>A | XP_016864717.1:p.Val2645Met | |
| NM_001999.4:c.8086G>A MANE Select | NP_001990.2:p.Val2696Met |