Linked Data
dbSNP Id:
rs749718065
ExAC:
17:6606310 A / G
gnomAD v2:
17-6606310-A-G
gnomAD v4:
17-6702991-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6702991A>G , CM000679.2:g.6702991A>G | GRCh38 |
| NC_000017.10:g.6606310A>G , CM000679.1:g.6606310A>G | GRCh37 |
| NC_000017.9:g.6547034A>G | NCBI36 |
| NG_034220.1:g.15431T>C , LRG_1020:g.15431T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433363.7:c.695T>C MANE Select | ENSP00000406220.2:p.Val232Ala | |
| ENST00000293800.10:c.644T>C | ENSP00000293800.6:p.Val215Ala | |
| ENST00000381074.8:c.566T>C | ENSP00000370464.4:p.Val189Ala | |
| ENST00000433363.6:c.695T>C | ENSP00000406220.2:p.Val232Ala | |
| ENST00000572094.1:c.*445T>C | ENSP00000461495.1:n.*445T>C | |
| ENST00000573648.5:c.695T>C | ENSP00000459372.1:p.Val232Ala | |
| ENST00000574824.5:n.1828T>C | ||
| NM_001143838.2:c.695T>C | NP_001137310.1:p.Val232Ala | |
| NM_001284509.1:c.644T>C | NP_001271438.1:p.Val215Ala | |
| NM_001284510.1:c.566T>C | NP_001271439.1:p.Val189Ala | |
| NM_177550.4:c.695T>C , LRG_1020t1:c.695T>C | NP_808218.1:p.Val232Ala | |
| XM_006721504.2:c.584T>C | XP_006721567.1:p.Val195Ala | |
| XM_011523795.1:c.695T>C | XP_011522097.1:p.Val232Ala | |
| XM_011523795.3:c.695T>C | XP_011522097.1:p.Val232Ala | |
| NM_001143838.3:c.695T>C | NP_001137310.1:p.Val232Ala | |
| NM_001284509.2:c.644T>C | NP_001271438.1:p.Val215Ala | |
| NM_001284510.2:c.566T>C | NP_001271439.1:p.Val189Ala | |
| NM_177550.5:c.695T>C MANE Select | NP_808218.1:p.Val232Ala |