Linked Data
ClinVar Variation Id:
132994
dbSNP Id:
rs193922837
ExAC:
19:39013851 C / G
gnomAD v2:
19-39013851-C-G
gnomAD v3:
19-38523211-C-G
gnomAD v4:
19-38523211-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38523211C>G , CM000681.2:g.38523211C>G | GRCh38 |
| NC_000019.9:g.39013851C>G , CM000681.1:g.39013851C>G | GRCh37 |
| NC_000019.8:g.43705691C>G | NCBI36 |
| NG_008866.1:g.94512C>G , LRG_766:g.94512C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000599547.6:c.10287-6C>G | ENSP00000471601.2:n.10287-6C>G | |
| ENST00000359596.8:c.10348-6C>G MANE Select | ENSP00000352608.2:n.10348-6C>G | |
| ENST00000355481.8:c.10348-6C>G | ENSP00000347667.3:n.10348-6C>G | |
| ENST00000359596.7:c.10348-6C>G | ENSP00000352608.2:n.10348-6C>G | |
| ENST00000360985.7:c.10345-6C>G | ENSP00000354254.4:n.10345-6C>G | |
| ENST00000594335.5:c.3750-6C>G | ||
| ENST00000599547.5:c.1155-6C>G | ||
| ENST00000600337.1:n.50-6C>G | ||
| NM_000540.2:c.10348-6C>G , LRG_766t1:c.10348-6C>G | NP_000531.2:n.10348-6C>G | |
| NM_001042723.1:c.10348-6C>G | NP_001036188.1:n.10348-6C>G | |
| XM_006723317.1:c.10348-6C>G | XP_006723380.1:n.10348-6C>G | |
| XM_006723319.1:c.10348-6C>G | XP_006723382.1:n.10348-6C>G | |
| XM_011527204.1:c.10345-6C>G | XP_011525506.1:n.10345-6C>G | |
| XM_011527205.1:c.10348-6C>G | XP_011525507.1:n.10348-6C>G | |
| XM_006723317.2:c.10348-6C>G | XP_006723380.1:n.10348-6C>G | |
| XM_006723319.2:c.10348-6C>G | XP_006723382.1:n.10348-6C>G | |
| XM_011527205.2:c.10348-6C>G | XP_011525507.1:n.10348-6C>G | |
| NM_000540.3:c.10348-6C>G MANE Select | NP_000531.2:n.10348-6C>G | |
| NM_001042723.2:c.10348-6C>G | NP_001036188.1:n.10348-6C>G |