Linked Data
ClinVar Variation Id:
213258
dbSNP Id:
rs147134796
ExAC:
5:127595356 C / T
gnomAD v2:
5-127595356-C-T
gnomAD v3:
5-128259664-C-T
gnomAD v4:
5-128259664-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128259664C>T , CM000667.2:g.128259664C>T | GRCh38 |
| NC_000005.9:g.127595356C>T , CM000667.1:g.127595356C>T | GRCh37 |
| NC_000005.8:g.127623255C>T | NCBI36 |
| NG_008750.1:g.283380G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262464.9:c.8530G>A MANE Select | ENSP00000262464.4:p.Val2844Ile | |
| ENST00000262464.8:c.8530G>A | ENSP00000262464.4:p.Val2844Ile | |
| ENST00000508053.5:c.8530G>A | ENSP00000424571.1:p.Val2844Ile | |
| ENST00000619499.4:c.8527G>A | ENSP00000482132.1:p.Val2843Ile | |
| NM_001999.3:c.8530G>A | NP_001990.2:p.Val2844Ile | |
| XM_017009228.2:c.8377G>A | XP_016864717.1:p.Val2793Ile | |
| NM_001999.4:c.8530G>A MANE Select | NP_001990.2:p.Val2844Ile |