Linked Data
ClinVar Variation Id:
2446989
ClinVar RCV Id:
RCV003164967
dbSNP Id:
rs770343432
ExAC:
2:21233052 G / A
gnomAD v2:
2-21233052-G-A
gnomAD v3:
2-21010180-G-A
gnomAD v4:
2-21010180-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21010180G>A , CM000664.2:g.21010180G>A | GRCh38 |
| NC_000002.11:g.21233052G>A , CM000664.1:g.21233052G>A | GRCh37 |
| NC_000002.10:g.21086557G>A | NCBI36 |
| NG_011793.1:g.38894C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233242.5:c.6688C>T MANE Select | ENSP00000233242.1:p.His2230Tyr | |
| ENST00000616098.4:c.6688C>T | ENSP00000477990.1:p.His2230Tyr | |
| NM_000384.2:c.6688C>T | NP_000375.2:p.His2230Tyr | |
| XM_011532809.1:c.5869+553C>T | XP_011531111.1:n.5869+553C>T | |
| NM_000384.3:c.6688C>T MANE Select | NP_000375.3:p.His2230Tyr |