Linked Data
ClinVar Variation Id:
736576
ClinVar RCV Id:
RCV000912245
dbSNP Id:
rs377440797
ExAC:
16:1412311 C / T
gnomAD v2:
16-1412311-C-T
gnomAD v3:
16-1362310-C-T
gnomAD v4:
16-1362310-C-T
COSMIC:
COSM2143660
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1362310C>T , CM000678.2:g.1362310C>T | GRCh38 |
| NC_000016.9:g.1412311C>T , CM000678.1:g.1412311C>T | GRCh37 |
| NC_000016.8:g.1352312C>T | NCBI36 |
| NG_016985.1:g.15412C>T | |
| NG_033129.1:g.57395G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527168.6:n.615C>T | ||
| ENST00000529110.2:c.600C>T | ENSP00000435349.2:p.His200= | |
| ENST00000529957.6:n.574C>T | ||
| ENST00000683366.1:c.*248C>T | ENSP00000507283.1:n.*248C>T | |
| ENST00000683887.1:c.564C>T | ENSP00000506886.1:p.His188= | |
| ENST00000684100.1:n.510C>T | ||
| ENST00000684126.1:n.574C>T | ||
| ENST00000684688.1:n.1141C>T | ||
| ENST00000204679.9:c.516C>T MANE Select | ENSP00000204679.4:p.His172= | |
| ENST00000204679.8:c.516C>T | ENSP00000204679.4:p.His172= | |
| ENST00000527076.1:n.1532C>T | ||
| ENST00000527168.5:n.552C>T | ||
| ENST00000529957.5:n.615C>T | ||
| NM_032520.4:c.516C>T | NP_115909.1:p.His172= | |
| XM_017023782.1:c.564C>T | XP_016879271.1:p.His188= | |
| XM_017023783.1:c.156C>T | XP_016879272.1:p.His52= | |
| NM_032520.5:c.516C>T MANE Select | NP_115909.1:p.His172= |