Linked Data
ClinVar Variation Id:
342667
ClinVar RCV Id:
RCV000956128
dbSNP Id:
rs61744168
ExAC:
3:119134032 G / A
gnomAD v2:
3-119134032-G-A
gnomAD v3:
3-119415185-G-A
gnomAD v4:
3-119415185-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119415185G>A , CM000665.2:g.119415185G>A | GRCh38 |
| NC_000003.11:g.119134032G>A , CM000665.1:g.119134032G>A | GRCh37 |
| NC_000003.10:g.120616722G>A | NCBI36 |
| NG_007665.2:g.125813G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264245.9:c.3256G>A MANE Select | ENSP00000264245.4:p.Ala1086Thr | |
| ENST00000264245.8:c.3256G>A | ENSP00000264245.4:p.Ala1086Thr | |
| NM_020754.3:c.3256G>A | NP_065805.2:p.Ala1086Thr | |
| XM_005247671.3:c.3163G>A | XP_005247728.1:p.Ala1055Thr | |
| XM_006713714.2:c.3196G>A | XP_006713777.1:p.Ala1066Thr | |
| XM_006713714.3:c.3196G>A | XP_006713777.1:p.Ala1066Thr | |
| XM_017006955.1:c.2764G>A | XP_016862444.1:p.Ala922Thr | |
| NM_020754.4:c.3256G>A MANE Select | NP_065805.2:p.Ala1086Thr |