Linked Data
ClinVar Variation Id:
318443
dbSNP Id:
rs758251652
ExAC:
16:23391912 C / T
gnomAD v2:
16-23391912-C-T
gnomAD v3:
16-23380591-C-T
gnomAD v4:
16-23380591-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23380591C>T , CM000678.2:g.23380591C>T | GRCh38 |
| NC_000016.9:g.23391912C>T , CM000678.1:g.23391912C>T | GRCh37 |
| NC_000016.8:g.23299413C>T | NCBI36 |
| NG_011908.1:g.83322C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343070.7:c.1713C>T MANE Select | ENSP00000345751.2:p.Tyr571= | |
| ENST00000307331.9:c.1848C>T | ENSP00000302874.5:p.Tyr616= | |
| ENST00000343070.6:c.1713C>T | ENSP00000345751.2:p.Tyr571= | |
| ENST00000564275.5:c.*718C>T | ENSP00000457754.1:n.*718C>T | |
| ENST00000568085.5:c.1605C>T | ENSP00000455673.1:p.Tyr535= | |
| ENST00000568923.5:c.1632C>T | ENSP00000456309.1:p.Tyr544= | |
| NM_000336.2:c.1713C>T | NP_000327.2:p.Tyr571= | |
| XM_011545913.1:c.1746C>T | XP_011544215.1:p.Tyr582= | |
| XM_011545914.1:c.1731C>T | XP_011544216.1:p.Tyr577= | |
| XM_011545913.2:c.1746C>T | XP_011544215.1:p.Tyr582= | |
| XM_017023525.1:c.1770C>T | XP_016879014.1:p.Tyr590= | |
| XM_017023526.1:c.1662C>T | XP_016879015.1:p.Tyr554= | |
| NM_000336.3:c.1713C>T MANE Select | NP_000327.2:p.Tyr571= |