Linked Data
ClinVar Variation Id:
2052602
dbSNP Id:
rs2145873966
gnomAD v3:
19-38573230-T-C
gnomAD v4:
19-38573230-T-C
MyVariant Identifiers:
chr19:g.39063870T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38573230T>C , CM000681.2:g.38573230T>C | GRCh38 |
| NC_000019.9:g.39063870T>C , CM000681.1:g.39063870T>C | GRCh37 |
| NC_000019.8:g.43755710T>C | NCBI36 |
| NG_008866.1:g.144531T>C , LRG_766:g.144531T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593677.2:c.988T>C | ||
| ENST00000688602.1:c.2385T>C | ||
| ENST00000689936.1:c.2357T>C | ||
| ENST00000359596.8:c.14052T>C MANE Select | ENSP00000352608.2:p.Phe4684= | |
| ENST00000355481.8:c.14037T>C | ENSP00000347667.3:p.Phe4679= | |
| ENST00000359596.7:c.14052T>C | ENSP00000352608.2:p.Phe4684= | |
| ENST00000360985.7:c.14034T>C | ENSP00000354254.4:p.Phe4678= | |
| NM_000540.2:c.14052T>C , LRG_766t1:c.14052T>C | NP_000531.2:p.Phe4684= | |
| NM_001042723.1:c.14037T>C | NP_001036188.1:p.Phe4679= | |
| XM_006723317.1:c.14034T>C | XP_006723380.1:p.Phe4678= | |
| XM_006723319.1:c.14019T>C | XP_006723382.1:p.Phe4673= | |
| XM_011527204.1:c.14049T>C | XP_011525506.1:p.Phe4683= | |
| XM_011527205.1:c.13965T>C | XP_011525507.1:p.Phe4655= | |
| XM_006723317.2:c.14034T>C | XP_006723380.1:p.Phe4678= | |
| XM_006723319.2:c.14019T>C | XP_006723382.1:p.Phe4673= | |
| XM_011527205.2:c.13965T>C | XP_011525507.1:p.Phe4655= | |
| NM_000540.3:c.14052T>C MANE Select | NP_000531.2:p.Phe4684= | |
| NM_001042723.2:c.14037T>C | NP_001036188.1:p.Phe4679= |