Linked Data
ClinVar Variation Id:
12982
dbSNP Id:
rs63749869
gnomAD v4:
19-38580440-G-A
ERepo:
CA024187/MONDO:0007783/012
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38580440G>A , CM000681.2:g.38580440G>A | GRCh38 |
| NC_000019.9:g.39071080G>A , CM000681.1:g.39071080G>A | GRCh37 |
| NC_000019.8:g.43762920G>A | NCBI36 |
| NG_008866.1:g.151741G>A , LRG_766:g.151741G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000593677.2:c.1518G>A | ||
| ENST00000688602.1:c.2915G>A | ||
| ENST00000689936.1:c.2887G>A | ||
| ENST00000359596.8:c.14582G>A MANE Select | ENSP00000352608.2:p.Arg4861His | |
| ENST00000355481.8:c.14567G>A | ENSP00000347667.3:p.Arg4856His | |
| ENST00000359596.7:c.14582G>A | ENSP00000352608.2:p.Arg4861His | |
| ENST00000360985.7:c.14564G>A | ENSP00000354254.4:p.Arg4855His | |
| NM_000540.2:c.14582G>A , LRG_766t1:c.14582G>A | NP_000531.2:p.Arg4861His | |
| NM_001042723.1:c.14567G>A | NP_001036188.1:p.Arg4856His | |
| XM_006723317.1:c.14564G>A | XP_006723380.1:p.Arg4855His | |
| XM_006723319.1:c.14549G>A | XP_006723382.1:p.Arg4850His | |
| XM_011527204.1:c.14579G>A | XP_011525506.1:p.Arg4860His | |
| XM_011527205.1:c.14495G>A | XP_011525507.1:p.Arg4832His | |
| XM_006723317.2:c.14564G>A | XP_006723380.1:p.Arg4855His | |
| XM_006723319.2:c.14549G>A | XP_006723382.1:p.Arg4850His | |
| XM_011527205.2:c.14495G>A | XP_011525507.1:p.Arg4832His | |
| NM_000540.3:c.14582G>A MANE Select | NP_000531.2:p.Arg4861His | |
| NM_001042723.2:c.14567G>A | NP_001036188.1:p.Arg4856His |