Linked Data
ClinVar Variation Id:
301124
dbSNP Id:
rs148835259
ExAC:
10:8100732 C / G
gnomAD v2:
10-8100732-C-G
gnomAD v3:
10-8058769-C-G
gnomAD v4:
10-8058769-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.8058769C>G , CM000672.2:g.8058769C>G | GRCh38 |
| NC_000010.10:g.8100732C>G , CM000672.1:g.8100732C>G | GRCh37 |
| NC_000010.9:g.8140738C>G | NCBI36 |
| NG_015859.1:g.9066C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346208.4:c.706C>G | ENSP00000341619.3:p.Pro236Ala | |
| ENST00000379328.9:c.706C>G MANE Select | ENSP00000368632.3:p.Pro236Ala | |
| ENST00000346208.3:c.706C>G | ENSP00000341619.3:p.Pro236Ala | |
| ENST00000379328.7:c.706C>G | ENSP00000368632.3:p.Pro236Ala | |
| ENST00000461472.1:n.371C>G | ||
| NM_001002295.1:c.706C>G | NP_001002295.1:p.Pro236Ala | |
| NM_002051.2:c.706C>G | NP_002042.1:p.Pro236Ala | |
| XM_005252442.2:c.706C>G | XP_005252499.1:p.Pro236Ala | |
| XM_005252443.3:c.706C>G | XP_005252500.1:p.Pro236Ala | |
| XM_005252443.5:c.706C>G | XP_005252500.1:p.Pro236Ala | |
| NM_001002295.2:c.706C>G MANE Select | NP_001002295.1:p.Pro236Ala | |
| NM_002051.3:c.706C>G | NP_002042.1:p.Pro236Ala |