Linked Data
ClinVar Variation Id:
137904
dbSNP Id:
rs587780992
gnomAD v2:
3-10183497-G-A
gnomAD v3:
3-10141813-G-A
gnomAD v4:
3-10141813-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10141813G>A , CM000665.2:g.10141813G>A | GRCh38 |
| NC_000003.11:g.10183497G>A , CM000665.1:g.10183497G>A | GRCh37 |
| NC_000003.10:g.10158497G>A | NCBI36 |
| NG_008212.3:g.5179G>A , LRG_322:g.5179G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696142.1:c.-35G>A | ENSP00000512434.1:n.-35G>A | |
| ENST00000696153.1:c.-35G>A | ENSP00000512444.1:n.-35G>A | |
| ENST00000256474.3:c.-35G>A MANE Select | ENSP00000256474.3:n.-35G>A | |
| ENST00000256474.2:c.-35G>A | ENSP00000256474.2:n.-35G>A | |
| ENST00000345392.2:c.-35G>A | ENSP00000344757.2:n.-35G>A | |
| NM_000551.3:c.-35G>A , LRG_322t1:c.-35G>A | NP_000542.1:n.-35G>A | |
| NM_198156.2:c.-35G>A | NP_937799.1:n.-35G>A | |
| XM_011534078.1:c.-35G>A | XP_011532380.1:n.-35G>A | |
| NM_001354723.1:c.-35G>A | NP_001341652.1:n.-35G>A | |
| NM_000551.4:c.-35G>A MANE Select | NP_000542.1:n.-35G>A | |
| NM_001354723.2:c.-35G>A | NP_001341652.1:n.-35G>A | |
| NM_198156.3:c.-35G>A | NP_937799.1:n.-35G>A |