Linked Data
ClinVar Variation Id:
3068653
ClinVar RCV Id:
RCV003994722
dbSNP Id:
rs1973359091
gnomAD v4:
19-38565388-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38565388G>C , CM000681.2:g.38565388G>C | GRCh38 |
| NC_000019.9:g.39056028G>C , CM000681.1:g.39056028G>C | GRCh37 |
| NC_000019.8:g.43747868G>C | NCBI36 |
| NG_008866.1:g.136689G>C , LRG_766:g.136689G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000688602.1:c.1464G>C | ||
| ENST00000689936.1:c.1446G>C | ||
| ENST00000359596.8:c.13054G>C MANE Select | ENSP00000352608.2:p.Ala4352Pro | |
| ENST00000355481.8:c.13039G>C | ENSP00000347667.3:p.Ala4347Pro | |
| ENST00000359596.7:c.13054G>C | ENSP00000352608.2:p.Ala4352Pro | |
| ENST00000360985.7:c.13036G>C | ENSP00000354254.4:p.Ala4346Pro | |
| NM_000540.2:c.13054G>C , LRG_766t1:c.13054G>C | NP_000531.2:p.Ala4352Pro | |
| NM_001042723.1:c.13039G>C | NP_001036188.1:p.Ala4347Pro | |
| XM_006723317.1:c.13036G>C | XP_006723380.1:p.Ala4346Pro | |
| XM_006723319.1:c.13021G>C | XP_006723382.1:p.Ala4341Pro | |
| XM_011527204.1:c.13051G>C | XP_011525506.1:p.Ala4351Pro | |
| XM_011527205.1:c.13054G>C | XP_011525507.1:p.Ala4352Pro | |
| XM_006723317.2:c.13036G>C | XP_006723380.1:p.Ala4346Pro | |
| XM_006723319.2:c.13021G>C | XP_006723382.1:p.Ala4341Pro | |
| XM_011527205.2:c.13054G>C | XP_011525507.1:p.Ala4352Pro | |
| NM_000540.3:c.13054G>C MANE Select | NP_000531.2:p.Ala4352Pro | |
| NM_001042723.2:c.13039G>C | NP_001036188.1:p.Ala4347Pro |