Linked Data
ClinVar Variation Id:
239816
dbSNP Id:
rs75895956
ExAC:
2:29449927 G / A
gnomAD v2:
2-29449927-G-A
gnomAD v3:
2-29227061-G-A
gnomAD v4:
2-29227061-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29227061G>A , CM000664.2:g.29227061G>A | GRCh38 |
| NC_000002.11:g.29449927G>A , CM000664.1:g.29449927G>A | GRCh37 |
| NC_000002.10:g.29303431G>A | NCBI36 |
| NG_009445.1:g.699506C>T , LRG_488:g.699506C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000389048.8:c.2928C>T MANE Select | ENSP00000373700.3:p.His976= | |
| ENST00000431873.6:c.94C>T | ||
| ENST00000389048.7:c.2928C>T | ENSP00000373700.3:p.His976= | |
| ENST00000618119.4:c.1797C>T | ENSP00000482733.1:p.His599= | |
| NM_004304.4:c.2928C>T | NP_004295.2:p.His976= | |
| XM_024452778.1:c.81C>T | XP_024308546.1:p.His27= | |
| XR_001738688.2:n.3784C>T | ||
| NM_004304.5:c.2928C>T MANE Select | NP_004295.2:p.His976= |