Linked Data
ClinVar Variation Id:
199214
ClinVar RCV Id:
RCV000180734
dbSNP Id:
rs794727984
gnomAD v4:
19-38564958-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38564958G>T , CM000681.2:g.38564958G>T | GRCh38 |
| NC_000019.9:g.39055598G>T , CM000681.1:g.39055598G>T | GRCh37 |
| NC_000019.8:g.43747438G>T | NCBI36 |
| NG_008866.1:g.136259G>T , LRG_766:g.136259G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000688602.1:c.1035-1G>T | ||
| ENST00000689936.1:c.1017-1G>T | ||
| ENST00000359596.8:c.12625-1G>T MANE Select | ENSP00000352608.2:n.12625-1G>T | |
| ENST00000355481.8:c.12610-1G>T | ENSP00000347667.3:n.12610-1G>T | |
| ENST00000359596.7:c.12625-1G>T | ENSP00000352608.2:n.12625-1G>T | |
| ENST00000360985.7:c.12607-1G>T | ENSP00000354254.4:n.12607-1G>T | |
| ENST00000594335.5:c.5994-1G>T | ||
| NM_000540.2:c.12625-1G>T , LRG_766t1:c.12625-1G>T | NP_000531.2:n.12625-1G>T | |
| NM_001042723.1:c.12610-1G>T | NP_001036188.1:n.12610-1G>T | |
| XM_006723317.1:c.12607-1G>T | XP_006723380.1:n.12607-1G>T | |
| XM_006723319.1:c.12592-1G>T | XP_006723382.1:n.12592-1G>T | |
| XM_011527204.1:c.12622-1G>T | XP_011525506.1:n.12622-1G>T | |
| XM_011527205.1:c.12625-1G>T | XP_011525507.1:n.12625-1G>T | |
| XM_006723317.2:c.12607-1G>T | XP_006723380.1:n.12607-1G>T | |
| XM_006723319.2:c.12592-1G>T | XP_006723382.1:n.12592-1G>T | |
| XM_011527205.2:c.12625-1G>T | XP_011525507.1:n.12625-1G>T | |
| NM_000540.3:c.12625-1G>T MANE Select | NP_000531.2:n.12625-1G>T | |
| NM_001042723.2:c.12610-1G>T | NP_001036188.1:n.12610-1G>T |