Linked Data
ClinVar Variation Id:
585442
dbSNP Id:
rs766146033
ExAC:
1:197111580 C / A
gnomAD v2:
1-197111580-C-A
gnomAD v3:
1-197142450-C-A
gnomAD v4:
1-197142450-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197142450C>A , CM000663.2:g.197142450C>A | GRCh38 |
| NC_000001.10:g.197111580C>A , CM000663.1:g.197111580C>A | GRCh37 |
| NC_000001.9:g.195378203C>A | NCBI36 |
| NG_015867.1:g.9245G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367409.9:c.1802G>T MANE Select | ENSP00000356379.4:p.Arg601Ile | |
| ENST00000679766.1:n.2019G>T | ||
| ENST00000680265.1:c.1802G>T | ENSP00000505384.1:p.Arg601Ile | |
| ENST00000680710.1:c.1802G>T | ENSP00000506676.1:p.Arg601Ile | |
| ENST00000681879.1:c.1802G>T | ENSP00000505363.1:p.Arg601Ile | |
| ENST00000294732.11:c.1802G>T | ENSP00000294732.7:p.Arg601Ile | |
| ENST00000367409.8:c.1802G>T | ENSP00000356379.4:p.Arg601Ile | |
| ENST00000612785.1:c.561+1241G>T | ENSP00000479244.1:n.561+1241G>T | |
| NM_001206846.1:c.1802G>T | NP_001193775.1:p.Arg601Ile | |
| NM_018136.4:c.1802G>T | NP_060606.3:p.Arg601Ile | |
| NM_018136.5:c.1802G>T MANE Select | NP_060606.3:p.Arg601Ile | |
| NM_001206846.2:c.1802G>T | NP_001193775.1:p.Arg601Ile |