Linked Data
ClinVar Variation Id:
1493926
ClinVar RCV Id:
RCV001986847
dbSNP Id:
rs2145845685
gnomAD v4:
19-38565398-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38565398T>C , CM000681.2:g.38565398T>C | GRCh38 |
| NC_000019.9:g.39056038T>C , CM000681.1:g.39056038T>C | GRCh37 |
| NC_000019.8:g.43747878T>C | NCBI36 |
| NG_008866.1:g.136699T>C , LRG_766:g.136699T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000688602.1:c.1474T>C | ||
| ENST00000689936.1:c.1456T>C | ||
| ENST00000359596.8:c.13064T>C MANE Select | ENSP00000352608.2:p.Leu4355Pro | |
| ENST00000355481.8:c.13049T>C | ENSP00000347667.3:p.Leu4350Pro | |
| ENST00000359596.7:c.13064T>C | ENSP00000352608.2:p.Leu4355Pro | |
| ENST00000360985.7:c.13046T>C | ENSP00000354254.4:p.Leu4349Pro | |
| NM_000540.2:c.13064T>C , LRG_766t1:c.13064T>C | NP_000531.2:p.Leu4355Pro | |
| NM_001042723.1:c.13049T>C | NP_001036188.1:p.Leu4350Pro | |
| XM_006723317.1:c.13046T>C | XP_006723380.1:p.Leu4349Pro | |
| XM_006723319.1:c.13031T>C | XP_006723382.1:p.Leu4344Pro | |
| XM_011527204.1:c.13061T>C | XP_011525506.1:p.Leu4354Pro | |
| XM_011527205.1:c.13064T>C | XP_011525507.1:p.Leu4355Pro | |
| XM_006723317.2:c.13046T>C | XP_006723380.1:p.Leu4349Pro | |
| XM_006723319.2:c.13031T>C | XP_006723382.1:p.Leu4344Pro | |
| XM_011527205.2:c.13064T>C | XP_011525507.1:p.Leu4355Pro | |
| NM_000540.3:c.13064T>C MANE Select | NP_000531.2:p.Leu4355Pro | |
| NM_001042723.2:c.13049T>C | NP_001036188.1:p.Leu4350Pro |