Linked Data
ClinVar Variation Id:
2817723
ClinVar RCV Id:
RCV003622694
gnomAD v4:
19-17843407-C-A
MyVariant Identifiers:
chr19:g.17954216C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17843407C>A , CM000681.2:g.17843407C>A | GRCh38 |
| NC_000019.9:g.17954216C>A , CM000681.1:g.17954216C>A | GRCh37 |
| NC_000019.8:g.17815216C>A | NCBI36 |
| NG_007273.1:g.9585G>T , LRG_77:g.9585G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526008.6:c.393G>T | ENSP00000513006.1:p.Leu131= | |
| ENST00000458235.7:c.393G>T MANE Select | ENSP00000391676.1:p.Leu131= | |
| ENST00000458235.5:c.393G>T | ENSP00000391676.1:p.Leu131= | |
| ENST00000526008.5:n.493G>T | ||
| ENST00000527031.5:n.483G>T | ||
| ENST00000527670.5:c.393G>T | ENSP00000432511.1:p.Leu131= | |
| ENST00000528293.1:n.408G>T | ||
| ENST00000534444.1:c.393G>T | ENSP00000436421.1:p.Leu131= | |
| NM_000215.3:c.393G>T , LRG_77t1:c.393G>T | NP_000206.2:p.Leu131= | |
| XM_005259896.2:c.522G>T | XP_005259953.1:p.Leu174= | |
| XM_006722745.2:c.393G>T | XP_006722808.1:p.Leu131= | |
| XM_011527990.1:c.522G>T | XP_011526292.1:p.Leu174= | |
| XM_011527991.1:c.522G>T | XP_011526293.1:p.Leu174= | |
| XR_430137.2:n.532G>T | ||
| XM_005259896.3:c.522G>T | XP_005259953.1:p.Leu174= | |
| XM_011527991.2:c.522G>T | XP_011526293.1:p.Leu174= | |
| NM_000215.4:c.393G>T MANE Select | NP_000206.2:p.Leu131= |