Linked Data
ClinVar Variation Id:
2261320
ClinVar RCV Id:
RCV002802989
dbSNP Id:
rs1288849183
gnomAD v2:
3-119132898-C-A
gnomAD v3:
3-119414051-C-A
gnomAD v4:
3-119414051-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119414051C>A , CM000665.2:g.119414051C>A | GRCh38 |
| NC_000003.11:g.119132898C>A , CM000665.1:g.119132898C>A | GRCh37 |
| NC_000003.10:g.120615588C>A | NCBI36 |
| NG_007665.2:g.124679C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264245.9:c.2122C>A MANE Select | ENSP00000264245.4:p.Pro708Thr | |
| ENST00000264245.8:c.2122C>A | ENSP00000264245.4:p.Pro708Thr | |
| NM_020754.3:c.2122C>A | NP_065805.2:p.Pro708Thr | |
| XM_005247671.3:c.2029C>A | XP_005247728.1:p.Pro677Thr | |
| XM_006713714.2:c.2062C>A | XP_006713777.1:p.Pro688Thr | |
| XM_006713714.3:c.2062C>A | XP_006713777.1:p.Pro688Thr | |
| XM_017006955.1:c.1630C>A | XP_016862444.1:p.Pro544Thr | |
| NM_020754.4:c.2122C>A MANE Select | NP_065805.2:p.Pro708Thr |