Linked Data
ClinVar Variation Id:
2853788
ClinVar RCV Id:
RCV003623287
MyVariant Identifiers:
chr19:g.17954222A>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17843413A>T , CM000681.2:g.17843413A>T | GRCh38 |
| NC_000019.9:g.17954222A>T , CM000681.1:g.17954222A>T | GRCh37 |
| NC_000019.8:g.17815222A>T | NCBI36 |
| NG_007273.1:g.9579T>A , LRG_77:g.9579T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526008.6:c.387T>A | ENSP00000513006.1:p.Leu129= | |
| ENST00000458235.7:c.387T>A MANE Select | ENSP00000391676.1:p.Leu129= | |
| ENST00000458235.5:c.387T>A | ENSP00000391676.1:p.Leu129= | |
| ENST00000526008.5:n.487T>A | ||
| ENST00000527031.5:n.477T>A | ||
| ENST00000527670.5:c.387T>A | ENSP00000432511.1:p.Leu129= | |
| ENST00000528293.1:n.402T>A | ||
| ENST00000534444.1:c.387T>A | ENSP00000436421.1:p.Leu129= | |
| NM_000215.3:c.387T>A , LRG_77t1:c.387T>A | NP_000206.2:p.Leu129= | |
| XM_005259896.2:c.516T>A | XP_005259953.1:p.Leu172= | |
| XM_006722745.2:c.387T>A | XP_006722808.1:p.Leu129= | |
| XM_011527990.1:c.516T>A | XP_011526292.1:p.Leu172= | |
| XM_011527991.1:c.516T>A | XP_011526293.1:p.Leu172= | |
| XR_430137.2:n.526T>A | ||
| XM_005259896.3:c.516T>A | XP_005259953.1:p.Leu172= | |
| XM_011527991.2:c.516T>A | XP_011526293.1:p.Leu172= | |
| NM_000215.4:c.387T>A MANE Select | NP_000206.2:p.Leu129= |