Linked Data
ClinVar Variation Id:
309834
ClinVar RCV Id:
RCV000392392
dbSNP Id:
rs763253683
ExAC:
12:56397452 C / T
gnomAD v2:
12-56397452-C-T
gnomAD v3:
12-56003668-C-T
gnomAD v4:
12-56003668-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56003668C>T , CM000674.2:g.56003668C>T | GRCh38 |
| NC_000012.11:g.56397452C>T , CM000674.1:g.56397452C>T | GRCh37 |
| NC_000012.10:g.54683719C>T | NCBI36 |
| NG_008136.1:g.11410C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266971.8:c.279C>T MANE Select | ENSP00000266971.3:p.His93= | |
| ENST00000266971.7:c.279C>T | ENSP00000266971.3:p.His93= | |
| ENST00000356124.8:c.279C>T | ENSP00000348440.4:p.His93= | |
| ENST00000394109.7:c.279C>T | ENSP00000377668.3:p.His93= | |
| ENST00000394115.6:c.279C>T | ENSP00000377674.2:p.His93= | |
| ENST00000546712.1:n.770C>T | ||
| ENST00000546833.5:c.279C>T | ENSP00000449872.1:p.His93= | |
| ENST00000548274.5:c.279C>T | ENSP00000450245.1:p.His93= | |
| ENST00000550065.1:c.279C>T | ENSP00000450264.1:p.His93= | |
| ENST00000550340.5:n.164C>T | ||
| ENST00000550478.5:n.358C>T | ||
| ENST00000551698.5:n.301C>T | ||
| ENST00000551841.6:c.267+12C>T | ENSP00000449443.1:n.267+12C>T | |
| ENST00000552258.5:c.279C>T | ENSP00000450049.1:p.His93= | |
| ENST00000552363.5:n.132C>T | ||
| NM_000456.2:c.279C>T | NP_000447.2:p.His93= | |
| NM_001032386.1:c.279C>T | NP_001027558.1:p.His93= | |
| NM_001032387.1:c.279C>T | NP_001027559.1:p.His93= | |
| XM_005269112.1:c.300C>T | XP_005269169.1:p.His100= | |
| XM_017019905.2:c.300C>T | XP_016875394.1:p.His100= | |
| XM_017019906.1:c.300C>T | XP_016875395.1:p.His100= | |
| XM_017019907.2:c.279C>T | XP_016875396.1:p.His93= | |
| XM_017019908.1:c.279C>T | XP_016875397.1:p.His93= | |
| XM_024449167.1:c.300C>T | XP_024304935.1:p.His100= | |
| NM_001032386.2:c.279C>T MANE Select | NP_001027558.1:p.His93= | |
| NM_000456.3:c.279C>T | NP_000447.2:p.His93= | |
| NM_001032387.2:c.279C>T | NP_001027559.1:p.His93= |