Linked Data
ClinVar Variation Id:
287740
dbSNP Id:
rs182360785
ExAC:
2:20113908 C / T
gnomAD v2:
2-20113908-C-T
gnomAD v3:
2-19914147-C-T
gnomAD v4:
2-19914147-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.19914147C>T , CM000664.2:g.19914147C>T | GRCh38 |
| NC_000002.11:g.20113908C>T , CM000664.1:g.20113908C>T | GRCh37 |
| NC_000002.10:g.19977389C>T | NCBI36 |
| NG_021212.1:g.80977G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281405.9:c.3252G>A MANE Select | ENSP00000281405.5:p.Glu1084= | |
| ENST00000345530.8:c.3285G>A MANE Plus Clinical | ENSP00000314444.5:p.Glu1095= | |
| ENST00000281405.8:c.3252G>A | ENSP00000281405.4:p.Glu1084= | |
| ENST00000345530.7:c.3285G>A | ENSP00000314444.5:p.Glu1095= | |
| ENST00000414212.5:c.*567G>A | ENSP00000390802.1:n.*567G>A | |
| ENST00000445063.5:c.2322-439G>A | ||
| NM_001006657.1:c.3285G>A | NP_001006658.1:p.Glu1095= | |
| NM_020779.3:c.3252G>A | NP_065830.2:p.Glu1084= | |
| XM_011533007.1:c.1980G>A | XP_011531309.1:p.Glu660= | |
| XM_011533007.2:c.1980G>A | XP_011531309.1:p.Glu660= | |
| XR_426989.3:n.3185G>A | ||
| NM_001006657.2:c.3285G>A MANE Plus Clinical | NP_001006658.1:p.Glu1095= | |
| NM_020779.4:c.3252G>A MANE Select | NP_065830.2:p.Glu1084= |