Linked Data
ClinVar Variation Id:
2154503
ClinVar RCV Id:
RCV003081815
dbSNP Id:
rs940829650
gnomAD v2:
2-203420820-G-A
gnomAD v3:
2-202556097-G-A
gnomAD v4:
2-202556097-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202556097G>A , CM000664.2:g.202556097G>A | GRCh38 |
| NC_000002.11:g.203420820G>A , CM000664.1:g.203420820G>A | GRCh37 |
| NC_000002.10:g.203129065G>A | NCBI36 |
| NG_009363.1:g.184771G>A , LRG_712:g.184771G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374580.10:c.2432G>A MANE Select | ENSP00000363708.4:p.Gly811Asp | |
| ENST00000638587.1:c.2363G>A | ENSP00000491062.1:n.2363G>A | |
| ENST00000374574.2:c.1586+3209G>A | ENSP00000363702.2:n.1586+3209G>A | |
| ENST00000374580.8:c.2432G>A | ENSP00000363708.4:p.Gly811Asp | |
| NM_001204.6:c.2432G>A , LRG_712t1:c.2432G>A | NP_001195.2:p.Gly811Asp | |
| XM_011511687.1:c.2432G>A | XP_011509989.1:p.Gly811Asp | |
| XM_011511688.1:c.1586+3209G>A | XP_011509990.1:n.1586+3209G>A | |
| NM_001204.7:c.2432G>A MANE Select | NP_001195.2:p.Gly811Asp |