Linked Data
ClinVar Variation Id:
156219
ClinVar RCV Id:
RCV000144240
dbSNP Id:
rs587777739
gnomAD v4:
7-122303281-G-A
PubMed:
PMID:25192046
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.122303281G>A , CM000669.2:g.122303281G>A | GRCh38 |
| NC_000007.13:g.121943335G>A , CM000669.1:g.121943335G>A | GRCh37 |
| NC_000007.12:g.121730571G>A | NCBI36 |
| NG_041775.1:g.6231C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442488.7:c.832C>T MANE Select | ENSP00000411145.2:p.His278Tyr | |
| ENST00000427185.2:c.682C>T | ENSP00000392727.2:p.His228Tyr | |
| ENST00000442488.6:c.832C>T | ENSP00000411145.2:p.His278Tyr | |
| NM_001024613.3:c.832C>T | NP_001019784.2:p.His278Tyr | |
| NM_001160264.2:c.682C>T | NP_001153736.1:p.His228Tyr | |
| XM_005250337.2:c.832C>T | XP_005250394.1:p.His278Tyr | |
| XM_011516200.1:c.832C>T | XP_011514502.1:p.His278Tyr | |
| XM_011516201.1:c.832C>T | XP_011514503.1:p.His278Tyr | |
| XM_011516202.1:c.682C>T | XP_011514504.1:p.His228Tyr | |
| XM_005250337.3:c.832C>T | XP_005250394.1:p.His278Tyr | |
| XM_011516202.2:c.682C>T | XP_011514504.1:p.His228Tyr | |
| NM_001024613.4:c.832C>T MANE Select | NP_001019784.2:p.His278Tyr |