Linked Data
ClinVar Variation Id:
1806308
ClinVar RCV Id:
RCV002470592
dbSNP Id:
rs1562959012
gnomAD v4:
7-98956191-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.98956191G>A , CM000669.2:g.98956191G>A | GRCh38 |
| NC_000007.13:g.98553814G>A , CM000669.1:g.98553814G>A | GRCh37 |
| NC_000007.12:g.98391750G>A | NCBI36 |
| NG_030010.1:g.82702G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000446306.8:c.5905G>A | ENSP00000403708.3:p.Ala1969Thr | |
| ENST00000704588.1:c.1720G>A | ENSP00000515962.1:p.Ala574Thr | |
| ENST00000456197.2:c.5983G>A MANE Select | ENSP00000394645.2:p.Ala1995Thr | |
| ENST00000355540.7:c.5908G>A | ENSP00000347733.3:p.Ala1970Thr | |
| ENST00000359863.8:c.5962G>A | ENSP00000352925.4:p.Ala1988Thr | |
| ENST00000446306.7:c.5905G>A | ENSP00000403708.3:p.Ala1969Thr | |
| ENST00000456197.1:c.5127G>A | ||
| ENST00000628380.2:c.5905G>A | ENSP00000485781.1:p.Ala1969Thr | |
| NM_001244580.1:c.5962G>A | NP_001231509.1:p.Ala1988Thr | |
| NM_003496.3:c.5908G>A | NP_003487.1:p.Ala1970Thr | |
| NM_001375524.1:c.5983G>A MANE Select | NP_001362453.1:p.Ala1995Thr | |
| NM_001244580.2:c.5962G>A | NP_001231509.1:p.Ala1988Thr | |
| NM_003496.4:c.5908G>A | NP_003487.1:p.Ala1970Thr |