Linked Data
ClinVar Variation Id:
470812
dbSNP Id:
rs761999849
ExAC:
2:29449876 G / A
gnomAD v2:
2-29449876-G-A
gnomAD v3:
2-29227010-G-A
gnomAD v4:
2-29227010-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29227010G>A , CM000664.2:g.29227010G>A | GRCh38 |
| NC_000002.11:g.29449876G>A , CM000664.1:g.29449876G>A | GRCh37 |
| NC_000002.10:g.29303380G>A | NCBI36 |
| NG_009445.1:g.699557C>T , LRG_488:g.699557C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.2979C>T MANE Select | ENSP00000373700.3:p.Asp993= | |
| ENST00000431873.6:c.145C>T | ||
| ENST00000389048.7:c.2979C>T | ENSP00000373700.3:p.Asp993= | |
| ENST00000618119.4:c.1848C>T | ENSP00000482733.1:p.Asp616= | |
| NM_004304.4:c.2979C>T | NP_004295.2:p.Asp993= | |
| XM_024452778.1:c.132C>T | XP_024308546.1:p.Asp44= | |
| XR_001738688.2:n.3835C>T | ||
| NM_004304.5:c.2979C>T MANE Select | NP_004295.2:p.Asp993= |