Linked Data
ClinVar Variation Id:
178499
dbSNP Id:
rs138141474
ExAC:
16:21728262 T / C
gnomAD v2:
16-21728262-T-C
gnomAD v3:
16-21716941-T-C
gnomAD v4:
16-21716941-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.21716941T>C , CM000678.2:g.21716941T>C | GRCh38 |
| NC_000016.9:g.21728262T>C , CM000678.1:g.21728262T>C | GRCh37 |
| NC_000016.8:g.21635763T>C | NCBI36 |
| NG_012973.1:g.43428T>C | |
| NG_012973.2:g.57809T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388958.8:c.1523T>C | ENSP00000373610.3:p.Val508Ala | |
| ENST00000646100.2:c.1523T>C MANE Select | ENSP00000496564.2:p.Val508Ala | |
| ENST00000647277.1:c.*337T>C | ENSP00000495594.1:n.*337T>C | |
| ENST00000286149.8:c.1565T>C | ENSP00000286149.4:p.Val522Ala | |
| ENST00000388956.8:c.1286T>C | ENSP00000373608.4:p.Val429Ala | |
| ENST00000388957.3:c.551T>C | ENSP00000373609.3:p.Val184Ala | |
| ENST00000388958.7:c.1523T>C | ENSP00000373610.3:p.Val508Ala | |
| ENST00000563871.5:n.743T>C | ||
| NM_001161683.1:c.1286T>C | NP_001155155.1:p.Val429Ala | |
| NM_144672.3:c.1523T>C | NP_653273.3:p.Val508Ala | |
| NM_170664.2:c.551T>C | NP_733764.1:p.Val184Ala | |
| XM_011545747.1:c.1523T>C | XP_011544049.1:p.Val508Ala | |
| XM_011545748.1:c.392T>C | XP_011544050.1:p.Val131Ala | |
| NM_144672.4:c.1523T>C MANE Select | NP_653273.3:p.Val508Ala | |
| XM_011545748.2:c.392T>C | XP_011544050.2:p.Val131Ala | |
| XR_002957775.1:n.618T>C | ||
| NM_001161683.2:c.1286T>C | NP_001155155.1:p.Val429Ala | |
| NM_170664.3:c.551T>C | NP_733764.1:p.Val184Ala |