Linked Data
ClinVar Variation Id:
229239
dbSNP Id:
rs140927806
ExAC:
16:23391905 C / T
gnomAD v2:
16-23391905-C-T
gnomAD v3:
16-23380584-C-T
gnomAD v4:
16-23380584-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23380584C>T , CM000678.2:g.23380584C>T | GRCh38 |
| NC_000016.9:g.23391905C>T , CM000678.1:g.23391905C>T | GRCh37 |
| NC_000016.8:g.23299406C>T | NCBI36 |
| NG_011908.1:g.83315C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343070.7:c.1706C>T MANE Select | ENSP00000345751.2:p.Ala569Val | |
| ENST00000307331.9:c.1841C>T | ENSP00000302874.5:p.Ala614Val | |
| ENST00000343070.6:c.1706C>T | ENSP00000345751.2:p.Ala569Val | |
| ENST00000564275.5:c.*711C>T | ENSP00000457754.1:n.*711C>T | |
| ENST00000568085.5:c.1598C>T | ENSP00000455673.1:p.Ala533Val | |
| ENST00000568923.5:c.1625C>T | ENSP00000456309.1:p.Ala542Val | |
| NM_000336.2:c.1706C>T | NP_000327.2:p.Ala569Val | |
| XM_011545913.1:c.1739C>T | XP_011544215.1:p.Ala580Val | |
| XM_011545914.1:c.1724C>T | XP_011544216.1:p.Ala575Val | |
| XM_011545913.2:c.1739C>T | XP_011544215.1:p.Ala580Val | |
| XM_017023525.1:c.1763C>T | XP_016879014.1:p.Ala588Val | |
| XM_017023526.1:c.1655C>T | XP_016879015.1:p.Ala552Val | |
| NM_000336.3:c.1706C>T MANE Select | NP_000327.2:p.Ala569Val |