Linked Data
ClinVar Variation Id:
2741041
ClinVar RCV Id:
RCV003591230
dbSNP Id:
rs1973365151
gnomAD v3:
19-38565472-C-T
gnomAD v4:
19-38565472-C-T
MyVariant Identifiers:
chr19:g.39056112C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38565472C>T , CM000681.2:g.38565472C>T | GRCh38 |
| NC_000019.9:g.39056112C>T , CM000681.1:g.39056112C>T | GRCh37 |
| NC_000019.8:g.43747952C>T | NCBI36 |
| NG_008866.1:g.136773C>T , LRG_766:g.136773C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593677.2:c.74C>T | ||
| ENST00000688602.1:c.1548C>T | ||
| ENST00000689936.1:c.1530C>T | ||
| ENST00000359596.8:c.13138C>T MANE Select | ENSP00000352608.2:p.Leu4380= | |
| ENST00000355481.8:c.13123C>T | ENSP00000347667.3:p.Leu4375= | |
| ENST00000359596.7:c.13138C>T | ENSP00000352608.2:p.Leu4380= | |
| ENST00000360985.7:c.13120C>T | ENSP00000354254.4:p.Leu4374= | |
| NM_000540.2:c.13138C>T , LRG_766t1:c.13138C>T | NP_000531.2:p.Leu4380= | |
| NM_001042723.1:c.13123C>T | NP_001036188.1:p.Leu4375= | |
| XM_006723317.1:c.13120C>T | XP_006723380.1:p.Leu4374= | |
| XM_006723319.1:c.13105C>T | XP_006723382.1:p.Leu4369= | |
| XM_011527204.1:c.13135C>T | XP_011525506.1:p.Leu4379= | |
| XM_011527205.1:c.13138C>T | XP_011525507.1:p.Leu4380= | |
| XM_006723317.2:c.13120C>T | XP_006723380.1:p.Leu4374= | |
| XM_006723319.2:c.13105C>T | XP_006723382.1:p.Leu4369= | |
| XM_011527205.2:c.13138C>T | XP_011525507.1:p.Leu4380= | |
| NM_000540.3:c.13138C>T MANE Select | NP_000531.2:p.Leu4380= | |
| NM_001042723.2:c.13123C>T | NP_001036188.1:p.Leu4375= |