Linked Data
ClinVar Variation Id:
101106
ClinVar RCV Id:
RCV000087343
dbSNP Id:
rs553203474
ExAC:
2:189864296 G / A
gnomAD v3:
2-188999570-G-A
gnomAD v4:
2-188999570-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.188999570G>A , CM000664.2:g.188999570G>A | GRCh38 |
| NC_000002.11:g.189864296G>A , CM000664.1:g.189864296G>A | GRCh37 |
| NC_000002.10:g.189572541G>A | NCBI36 |
| NG_007404.1:g.30198G>A , LRG_3:g.30198G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.2123G>A | ENSP00000415346.2:p.Gly708Asp | |
| ENST00000304636.9:c.2222G>A MANE Select | ENSP00000304408.4:p.Gly741Asp | |
| ENST00000304636.7:c.2222G>A | ENSP00000304408.3:p.Gly741Asp | |
| ENST00000317840.9:c.2222G>A | ENSP00000315243.6:p.Gly741Asp | |
| NM_000090.3:c.2222G>A , LRG_3t1:c.2222G>A | NP_000081.1:p.Gly741Asp | |
| NM_000090.4:c.2222G>A MANE Select | NP_000081.2:p.Gly741Asp |