Linked Data
ClinVar Variation Id:
528399
dbSNP Id:
rs148598779
ExAC:
5:127693085 T / C
gnomAD v2:
5-127693085-T-C
gnomAD v3:
5-128357393-T-C
gnomAD v4:
5-128357393-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128357393T>C , CM000667.2:g.128357393T>C | GRCh38 |
| NC_000005.9:g.127693085T>C , CM000667.1:g.127693085T>C | GRCh37 |
| NC_000005.8:g.127720984T>C | NCBI36 |
| NG_008750.1:g.185651A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262464.9:c.2557A>G MANE Select | ENSP00000262464.4:p.Ile853Val | |
| ENST00000262464.8:c.2557A>G | ENSP00000262464.4:p.Ile853Val | |
| ENST00000508053.5:c.2557A>G | ENSP00000424571.1:p.Ile853Val | |
| ENST00000508989.5:c.2458A>G | ENSP00000425596.1:p.Ile820Val | |
| ENST00000619499.4:c.2554A>G | ENSP00000482132.1:p.Ile852Val | |
| NM_001999.3:c.2557A>G | NP_001990.2:p.Ile853Val | |
| XM_017009228.2:c.2404A>G | XP_016864717.1:p.Ile802Val | |
| NM_001999.4:c.2557A>G MANE Select | NP_001990.2:p.Ile853Val |