Linked Data
ClinVar Variation Id:
318419
dbSNP Id:
rs757137077
ExAC:
16:23360166 C / T
gnomAD v2:
16-23360166-C-T
gnomAD v3:
16-23348845-C-T
gnomAD v4:
16-23348845-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23348845C>T , CM000678.2:g.23348845C>T | GRCh38 |
| NC_000016.9:g.23360166C>T , CM000678.1:g.23360166C>T | GRCh37 |
| NC_000016.8:g.23267667C>T | NCBI36 |
| NG_011908.1:g.51576C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343070.7:c.246C>T MANE Select | ENSP00000345751.2:p.Ser82= | |
| ENST00000307331.9:c.381C>T | ENSP00000302874.5:p.Ser127= | |
| ENST00000343070.6:c.246C>T | ENSP00000345751.2:p.Ser82= | |
| ENST00000564275.5:c.246C>T | ENSP00000457754.1:p.Ser82= | |
| ENST00000566870.1:n.51C>T | ||
| ENST00000568085.5:c.246C>T | ENSP00000455673.1:p.Ser82= | |
| ENST00000568923.5:c.246C>T | ENSP00000456309.1:p.Ser82= | |
| ENST00000569789.1:n.432C>T | ||
| NM_000336.2:c.246C>T | NP_000327.2:p.Ser82= | |
| XM_011545913.1:c.279C>T | XP_011544215.1:p.Ser93= | |
| XM_011545914.1:c.264C>T | XP_011544216.1:p.Ser88= | |
| XM_011545913.2:c.279C>T | XP_011544215.1:p.Ser93= | |
| XM_017023525.1:c.303C>T | XP_016879014.1:p.Ser101= | |
| XM_017023526.1:c.303C>T | XP_016879015.1:p.Ser101= | |
| NM_000336.3:c.246C>T MANE Select | NP_000327.2:p.Ser82= |