Linked Data
ClinVar Variation Id:
133219
dbSNP Id:
rs112196644
ERepo:
CA024896/MONDO:0018493/012
PubMed:
PMID:16917943
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38504869A>G , CM000681.2:g.38504869A>G | GRCh38 |
| NC_000019.9:g.38995509A>G , CM000681.1:g.38995509A>G | GRCh37 |
| NC_000019.8:g.43687349A>G | NCBI36 |
| NG_008866.1:g.76170A>G , LRG_766:g.76170A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000599547.6:c.8189A>G | ENSP00000471601.2:p.Asp2730Gly | |
| ENST00000359596.8:c.8189A>G MANE Select | ENSP00000352608.2:p.Asp2730Gly | |
| ENST00000355481.8:c.8189A>G | ENSP00000347667.3:p.Asp2730Gly | |
| ENST00000359596.7:c.8189A>G | ENSP00000352608.2:p.Asp2730Gly | |
| ENST00000360985.7:c.8186A>G | ENSP00000354254.4:p.Asp2729Gly | |
| ENST00000594335.5:c.1641A>G | ||
| NM_000540.2:c.8189A>G , LRG_766t1:c.8189A>G | NP_000531.2:p.Asp2730Gly | |
| NM_001042723.1:c.8189A>G | NP_001036188.1:p.Asp2730Gly | |
| XM_006723317.1:c.8189A>G | XP_006723380.1:p.Asp2730Gly | |
| XM_006723319.1:c.8189A>G | XP_006723382.1:p.Asp2730Gly | |
| XM_011527204.1:c.8186A>G | XP_011525506.1:p.Asp2729Gly | |
| XM_011527205.1:c.8189A>G | XP_011525507.1:p.Asp2730Gly | |
| XM_006723317.2:c.8189A>G | XP_006723380.1:p.Asp2730Gly | |
| XM_006723319.2:c.8189A>G | XP_006723382.1:p.Asp2730Gly | |
| XM_011527205.2:c.8189A>G | XP_011525507.1:p.Asp2730Gly | |
| XR_001753735.1:n.8272A>G | ||
| NM_000540.3:c.8189A>G MANE Select | NP_000531.2:p.Asp2730Gly | |
| NM_001042723.2:c.8189A>G | NP_001036188.1:p.Asp2730Gly |