Linked Data
ClinVar Variation Id:
753068
ClinVar RCV Id:
RCV000930272
dbSNP Id:
rs141533972
ExAC:
16:1412048 C / T
gnomAD v2:
16-1412048-C-T
gnomAD v3:
16-1362047-C-T
gnomAD v4:
16-1362047-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1362047C>T , CM000678.2:g.1362047C>T | GRCh38 |
| NC_000016.9:g.1412048C>T , CM000678.1:g.1412048C>T | GRCh37 |
| NC_000016.8:g.1352049C>T | NCBI36 |
| NG_016985.1:g.15149C>T | |
| NG_033129.1:g.57658G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527168.6:n.426C>T | ||
| ENST00000529110.2:c.411C>T | ENSP00000435349.2:p.His137= | |
| ENST00000529957.6:n.385C>T | ||
| ENST00000683366.1:c.*59C>T | ENSP00000507283.1:n.*59C>T | |
| ENST00000683887.1:c.375C>T | ENSP00000506886.1:p.His125= | |
| ENST00000684100.1:n.321C>T | ||
| ENST00000684126.1:n.385C>T | ||
| ENST00000684688.1:n.952C>T | ||
| ENST00000204679.9:c.327C>T MANE Select | ENSP00000204679.4:p.His109= | |
| ENST00000204679.8:c.327C>T | ENSP00000204679.4:p.His109= | |
| ENST00000526820.5:c.*229C>T | ENSP00000434413.1:n.*229C>T | |
| ENST00000527076.1:n.1343C>T | ||
| ENST00000527168.5:n.363C>T | ||
| ENST00000529110.1:c.394C>T | ||
| ENST00000529957.5:n.426C>T | ||
| NM_032520.4:c.327C>T | NP_115909.1:p.His109= | |
| XM_017023782.1:c.375C>T | XP_016879271.1:p.His125= | |
| XM_017023783.1:c.-34C>T | XP_016879272.1:n.-34C>T | |
| NM_032520.5:c.327C>T MANE Select | NP_115909.1:p.His109= |