Linked Data
dbSNP Id:
rs377440797
ExAC:
16:1412311 C / A
gnomAD v2:
16-1412311-C-A
gnomAD v4:
16-1362310-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1362310C>A , CM000678.2:g.1362310C>A | GRCh38 |
| NC_000016.9:g.1412311C>A , CM000678.1:g.1412311C>A | GRCh37 |
| NC_000016.8:g.1352312C>A | NCBI36 |
| NG_016985.1:g.15412C>A | |
| NG_033129.1:g.57395G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527168.6:n.615C>A | ||
| ENST00000529110.2:c.600C>A | ENSP00000435349.2:p.His200Gln | |
| ENST00000529957.6:n.574C>A | ||
| ENST00000683366.1:c.*248C>A | ENSP00000507283.1:n.*248C>A | |
| ENST00000683887.1:c.564C>A | ENSP00000506886.1:p.His188Gln | |
| ENST00000684100.1:n.510C>A | ||
| ENST00000684126.1:n.574C>A | ||
| ENST00000684688.1:n.1141C>A | ||
| ENST00000204679.9:c.516C>A MANE Select | ENSP00000204679.4:p.His172Gln | |
| ENST00000204679.8:c.516C>A | ENSP00000204679.4:p.His172Gln | |
| ENST00000527076.1:n.1532C>A | ||
| ENST00000527168.5:n.552C>A | ||
| ENST00000529957.5:n.615C>A | ||
| NM_032520.4:c.516C>A | NP_115909.1:p.His172Gln | |
| XM_017023782.1:c.564C>A | XP_016879271.1:p.His188Gln | |
| XM_017023783.1:c.156C>A | XP_016879272.1:p.His52Gln | |
| NM_032520.5:c.516C>A MANE Select | NP_115909.1:p.His172Gln |