Linked Data
ClinVar Variation Id:
3139404
ClinVar RCV Id:
RCV004427748
dbSNP Id:
rs146047218
ExAC:
15:78475108 T / A
gnomAD v2:
15-78475108-T-A
gnomAD v3:
15-78182766-T-A
gnomAD v4:
15-78182766-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.78182766T>A , CM000677.2:g.78182766T>A | GRCh38 |
| NC_000015.9:g.78475108T>A , CM000677.1:g.78475108T>A | GRCh37 |
| NC_000015.8:g.76262163T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258873.9:c.683A>T MANE Select | ENSP00000258873.4:p.His228Leu | |
| ENST00000258873.8:c.683A>T | ENSP00000258873.4:p.His228Leu | |
| ENST00000557935.1:c.*565A>T | ENSP00000453585.1:n.*565A>T | |
| ENST00000558728.1:n.121A>T | ||
| ENST00000559114.5:c.362A>T | ENSP00000454188.1:p.His121Leu | |
| ENST00000559241.5:c.707A>T | ENSP00000453547.1:p.His236Leu | |
| ENST00000559707.5:c.*339A>T | ENSP00000453447.1:n.*339A>T | |
| ENST00000560124.5:c.151A>T | ENSP00000453605.1:p.Ile51Phe | |
| ENST00000560817.5:c.-44A>T | ENSP00000453451.1:n.-44A>T | |
| NM_001199377.1:c.671A>T | NP_001186306.1:p.His224Leu | |
| NM_015162.4:c.683A>T | NP_055977.3:p.His228Leu | |
| XM_011521389.1:c.707A>T | XP_011519691.1:p.His236Leu | |
| XM_011521390.1:c.617A>T | XP_011519692.1:p.His206Leu | |
| XM_011521391.1:c.470A>T | XP_011519693.1:p.His157Leu | |
| XM_011521390.3:c.617A>T | XP_011519692.1:p.His206Leu | |
| XM_011521391.2:c.470A>T | XP_011519693.2:p.His157Leu | |
| XM_017022025.2:c.683A>T | XP_016877514.1:p.His228Leu | |
| XM_017022026.1:c.707A>T | XP_016877515.1:p.His236Leu | |
| NM_015162.5:c.683A>T MANE Select | NP_055977.3:p.His228Leu | |
| NM_001199377.2:c.671A>T | NP_001186306.1:p.His224Leu |