Linked Data
ClinVar Variation Id:
1583997
ClinVar RCV Id:
RCV002100157
dbSNP Id:
rs112124868
gnomAD v4:
19-38502981-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38502981G>A , CM000681.2:g.38502981G>A | GRCh38 |
| NC_000019.9:g.38993621G>A , CM000681.1:g.38993621G>A | GRCh37 |
| NC_000019.8:g.43685461G>A | NCBI36 |
| NG_008866.1:g.74282G>A , LRG_766:g.74282G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000599547.6:c.7926+11G>A | ENSP00000471601.2:n.7926+11G>A | |
| ENST00000359596.8:c.7926+11G>A MANE Select | ENSP00000352608.2:n.7926+11G>A | |
| ENST00000355481.8:c.7926+11G>A | ENSP00000347667.3:n.7926+11G>A | |
| ENST00000359596.7:c.7926+11G>A | ENSP00000352608.2:n.7926+11G>A | |
| ENST00000360985.7:c.7923+11G>A | ENSP00000354254.4:n.7923+11G>A | |
| ENST00000594335.5:c.1378+11G>A | ||
| NM_000540.2:c.7926+11G>A , LRG_766t1:c.7926+11G>A | NP_000531.2:n.7926+11G>A | |
| NM_001042723.1:c.7926+11G>A | NP_001036188.1:n.7926+11G>A | |
| XM_006723317.1:c.7926+11G>A | XP_006723380.1:n.7926+11G>A | |
| XM_006723319.1:c.7926+11G>A | XP_006723382.1:n.7926+11G>A | |
| XM_011527204.1:c.7923+11G>A | XP_011525506.1:n.7923+11G>A | |
| XM_011527205.1:c.7926+11G>A | XP_011525507.1:n.7926+11G>A | |
| XM_006723317.2:c.7926+11G>A | XP_006723380.1:n.7926+11G>A | |
| XM_006723319.2:c.7926+11G>A | XP_006723382.1:n.7926+11G>A | |
| XM_011527205.2:c.7926+11G>A | XP_011525507.1:n.7926+11G>A | |
| XR_001753735.1:n.8009+11G>A | ||
| NM_000540.3:c.7926+11G>A MANE Select | NP_000531.2:n.7926+11G>A | |
| NM_001042723.2:c.7926+11G>A | NP_001036188.1:n.7926+11G>A |