Linked Data
ClinVar Variation Id:
502690
dbSNP Id:
rs1218867675
gnomAD v2:
1-160253341-T-C
gnomAD v3:
1-160283551-T-C
gnomAD v4:
1-160283551-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160283551T>C , CM000663.2:g.160283551T>C | GRCh38 |
| NC_000001.10:g.160253341T>C , CM000663.1:g.160253341T>C | GRCh37 |
| NC_000001.9:g.158519965T>C | NCBI36 |
| NG_008637.1:g.6601A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368072.10:c.159A>G MANE Select | ENSP00000357051.5:p.Arg53= | |
| ENST00000556710.6:c.71-442A>G | ENSP00000451235.2:n.71-442A>G | |
| ENST00000368072.9:c.159A>G | ENSP00000357051.5:p.Arg53= | |
| ENST00000392220.2:c.99A>G | ENSP00000376054.2:p.Arg33= | |
| ENST00000462644.5:c.99A>G | ENSP00000435896.1:p.Arg33= | |
| ENST00000472750.5:c.71-442A>G | ENSP00000434633.1:n.71-442A>G | |
| ENST00000524939.1:n.176A>G | ||
| ENST00000532508.5:n.131A>G | ||
| ENST00000532643.5:c.159A>G | ENSP00000435915.1:p.Arg53= | |
| ENST00000533104.1:n.80-442A>G | ||
| ENST00000533699.5:n.153A>G | ||
| ENST00000556710.5:c.-175-442A>G | ENSP00000451235.1:n.-175-442A>G | |
| NM_001193644.1:c.159A>G | NP_001180573.1:p.Arg53= | |
| NM_002857.3:c.159A>G | NP_002848.1:p.Arg53= | |
| NR_036492.1:n.98-442A>G | ||
| NR_036493.1:n.186A>G | ||
| NM_002857.4:c.159A>G MANE Select | NP_002848.1:p.Arg53= | |
| NR_036492.2:n.80-442A>G | ||
| NR_036493.2:n.168A>G |