Linked Data
ClinVar Variation Id:
318439
dbSNP Id:
rs193211556
ExAC:
16:23390041 C / T
gnomAD v2:
16-23390041-C-T
gnomAD v3:
16-23378720-C-T
gnomAD v4:
16-23378720-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23378720C>T , CM000678.2:g.23378720C>T | GRCh38 |
| NC_000016.9:g.23390041C>T , CM000678.1:g.23390041C>T | GRCh37 |
| NC_000016.8:g.23297542C>T | NCBI36 |
| NG_011908.1:g.81451C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343070.7:c.1419C>T MANE Select | ENSP00000345751.2:p.His473= | |
| ENST00000307331.9:c.1554C>T | ENSP00000302874.5:p.His518= | |
| ENST00000343070.6:c.1419C>T | ENSP00000345751.2:p.His473= | |
| ENST00000564275.5:c.*424C>T | ENSP00000457754.1:n.*424C>T | |
| ENST00000568085.5:c.1311C>T | ENSP00000455673.1:p.His437= | |
| ENST00000568923.5:c.1338C>T | ENSP00000456309.1:p.His446= | |
| NM_000336.2:c.1419C>T | NP_000327.2:p.His473= | |
| XM_011545913.1:c.1452C>T | XP_011544215.1:p.His484= | |
| XM_011545914.1:c.1437C>T | XP_011544216.1:p.His479= | |
| XM_011545913.2:c.1452C>T | XP_011544215.1:p.His484= | |
| XM_017023525.1:c.1476C>T | XP_016879014.1:p.His492= | |
| XM_017023526.1:c.1368C>T | XP_016879015.1:p.His456= | |
| NM_000336.3:c.1419C>T MANE Select | NP_000327.2:p.His473= |