Linked Data
dbSNP Id:
rs1354253224
gnomAD v2:
4-56212416-G-A
gnomAD v3:
4-55346249-G-A
gnomAD v4:
4-55346249-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55346249G>A , CM000666.2:g.55346249G>A | GRCh38 |
| NC_000004.11:g.56212416G>A , CM000666.1:g.56212416G>A | GRCh37 |
| NC_000004.10:g.55907173G>A | NCBI36 |
| NG_028230.1:g.5029G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264228.9:c.-88G>A MANE Select | ENSP00000264228.4:n.-88G>A | |
| ENST00000679707.1:c.-88G>A | ENSP00000505713.1:n.-88G>A | |
| ENST00000679836.1:c.-88G>A | ENSP00000506601.1:n.-88G>A | |
| ENST00000264228.8:c.-88G>A | ENSP00000264228.4:n.-88G>A | |
| NM_024592.4:c.-88G>A | NP_078868.1:n.-88G>A | |
| XM_005265766.2:c.-88G>A | XP_005265823.1:n.-88G>A | |
| XM_005265767.2:c.-88G>A | XP_005265824.1:n.-88G>A | |
| XM_005265766.4:c.-88G>A | XP_005265823.1:n.-88G>A | |
| XM_005265767.3:c.-88G>A | XP_005265824.1:n.-88G>A | |
| NM_024592.5:c.-88G>A MANE Select | NP_078868.1:n.-88G>A |