Linked Data
ClinVar Variation Id:
203778
dbSNP Id:
rs144744634
ExAC:
1:120311395 G / C
gnomAD v2:
1-120311395-G-C
gnomAD v3:
1-119768772-G-C
gnomAD v4:
1-119768772-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119768772G>C , CM000663.2:g.119768772G>C | GRCh38 |
| NC_000001.10:g.120311395G>C , CM000663.1:g.120311395G>C | GRCh37 |
| NC_000001.9:g.120112918G>C | NCBI36 |
| NG_013348.1:g.5161C>G , LRG_447:g.5161C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369406.8:c.73C>G MANE Select | ENSP00000358414.3:p.Pro25Ala | |
| ENST00000369406.7:c.73C>G | ENSP00000358414.3:p.Pro25Ala | |
| ENST00000544913.2:c.73C>G | ENSP00000439495.2:p.Pro25Ala | |
| NM_001166107.1:c.73C>G , LRG_447t2:c.73C>G | NP_001159579.1:p.Pro25Ala | |
| NM_005518.3:c.73C>G , LRG_447t1:c.73C>G | NP_005509.1:p.Pro25Ala | |
| XM_011541313.1:c.73C>G | XP_011539615.1:p.Pro25Ala | |
| XM_011541313.2:c.73C>G | XP_011539615.1:p.Pro25Ala | |
| NM_005518.4:c.73C>G MANE Select | NP_005509.1:p.Pro25Ala |