Linked Data
ClinVar Variation Id:
745105
ClinVar RCV Id:
RCV000921612
dbSNP Id:
rs144974698
ExAC:
15:78472118 G / A
gnomAD v2:
15-78472118-G-A
gnomAD v3:
15-78179776-G-A
gnomAD v4:
15-78179776-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.78179776G>A , CM000677.2:g.78179776G>A | GRCh38 |
| NC_000015.9:g.78472118G>A , CM000677.1:g.78472118G>A | GRCh37 |
| NC_000015.8:g.76259173G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258873.9:c.1258C>T MANE Select | ENSP00000258873.4:p.Leu420= | |
| ENST00000258873.8:c.1258C>T | ENSP00000258873.4:p.Leu420= | |
| ENST00000558301.5:n.334C>T | ||
| ENST00000558728.1:n.696C>T | ||
| ENST00000559707.5:c.*914C>T | ENSP00000453447.1:n.*914C>T | |
| ENST00000560124.5:c.*570C>T | ENSP00000453605.1:n.*570C>T | |
| ENST00000560817.5:c.532C>T | ENSP00000453451.1:p.Leu178= | |
| NM_001199377.1:c.1246C>T | NP_001186306.1:p.Leu416= | |
| NM_015162.4:c.1258C>T | NP_055977.3:p.Leu420= | |
| XM_011521389.1:c.1282C>T | XP_011519691.1:p.Leu428= | |
| XM_011521390.1:c.1192C>T | XP_011519692.1:p.Leu398= | |
| XM_011521391.1:c.1045C>T | XP_011519693.1:p.Leu349= | |
| XM_011521390.3:c.1192C>T | XP_011519692.1:p.Leu398= | |
| XM_011521391.2:c.1045C>T | XP_011519693.2:p.Leu349= | |
| XM_017022025.2:c.1258C>T | XP_016877514.1:p.Leu420= | |
| XM_017022026.1:c.1282C>T | XP_016877515.1:p.Leu428= | |
| NM_015162.5:c.1258C>T MANE Select | NP_055977.3:p.Leu420= | |
| NM_001199377.2:c.1246C>T | NP_001186306.1:p.Leu416= |