Linked Data
ClinVar Variation Id:
8830
dbSNP Id:
rs137852704
gnomAD v3:
16-23380574-C-T
gnomAD v4:
16-23380574-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23380574C>T , CM000678.2:g.23380574C>T | GRCh38 |
| NC_000016.9:g.23391895C>T , CM000678.1:g.23391895C>T | GRCh37 |
| NC_000016.8:g.23299396C>T | NCBI36 |
| NG_011908.1:g.83305C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343070.7:c.1696C>T MANE Select | ENSP00000345751.2:p.Arg566Ter | |
| ENST00000307331.9:c.1831C>T | ENSP00000302874.5:p.Arg611Ter | |
| ENST00000343070.6:c.1696C>T | ENSP00000345751.2:p.Arg566Ter | |
| ENST00000564275.5:c.*701C>T | ENSP00000457754.1:n.*701C>T | |
| ENST00000568085.5:c.1588C>T | ENSP00000455673.1:p.Arg530Ter | |
| ENST00000568923.5:c.1615C>T | ENSP00000456309.1:p.Arg539Ter | |
| NM_000336.2:c.1696C>T | NP_000327.2:p.Arg566Ter | |
| XM_011545913.1:c.1729C>T | XP_011544215.1:p.Arg577Ter | |
| XM_011545914.1:c.1714C>T | XP_011544216.1:p.Arg572Ter | |
| XM_011545913.2:c.1729C>T | XP_011544215.1:p.Arg577Ter | |
| XM_017023525.1:c.1753C>T | XP_016879014.1:p.Arg585Ter | |
| XM_017023526.1:c.1645C>T | XP_016879015.1:p.Arg549Ter | |
| NM_000336.3:c.1696C>T MANE Select | NP_000327.2:p.Arg566Ter |