Linked Data
dbSNP Id:
rs562132501
ExAC:
16:1412243 C / T
gnomAD v2:
16-1412243-C-T
gnomAD v3:
16-1362242-C-T
gnomAD v4:
16-1362242-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1362242C>T , CM000678.2:g.1362242C>T | GRCh38 |
| NC_000016.9:g.1412243C>T , CM000678.1:g.1412243C>T | GRCh37 |
| NC_000016.8:g.1352244C>T | NCBI36 |
| NG_016985.1:g.15344C>T | |
| NG_033129.1:g.57463G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527168.6:n.547C>T | ||
| ENST00000529110.2:c.532C>T | ENSP00000435349.2:p.His178Tyr | |
| ENST00000529957.6:n.506C>T | ||
| ENST00000683366.1:c.*180C>T | ENSP00000507283.1:n.*180C>T | |
| ENST00000683887.1:c.496C>T | ENSP00000506886.1:p.His166Tyr | |
| ENST00000684100.1:n.442C>T | ||
| ENST00000684126.1:n.506C>T | ||
| ENST00000684688.1:n.1073C>T | ||
| ENST00000204679.9:c.448C>T MANE Select | ENSP00000204679.4:p.His150Tyr | |
| ENST00000204679.8:c.448C>T | ENSP00000204679.4:p.His150Tyr | |
| ENST00000527076.1:n.1464C>T | ||
| ENST00000527168.5:n.484C>T | ||
| ENST00000529110.1:c.515C>T | ||
| ENST00000529957.5:n.547C>T | ||
| NM_032520.4:c.448C>T | NP_115909.1:p.His150Tyr | |
| XM_017023782.1:c.496C>T | XP_016879271.1:p.His166Tyr | |
| XM_017023783.1:c.88C>T | XP_016879272.1:p.His30Tyr | |
| NM_032520.5:c.448C>T MANE Select | NP_115909.1:p.His150Tyr |