Linked Data
dbSNP Id:
rs62620692
ExAC:
15:89424608 A / T
gnomAD v2:
15-89424608-A-T
gnomAD v3:
15-88881377-A-T
gnomAD v4:
15-88881377-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.88881377A>T , CM000677.2:g.88881377A>T | GRCh38 |
| NC_000015.9:g.89424608A>T , CM000677.1:g.89424608A>T | GRCh37 |
| NC_000015.8:g.87225612A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359595.8:c.473T>A MANE Select | ENSP00000352606.4:p.Leu158Gln | |
| ENST00000359595.7:c.473T>A | ENSP00000352606.3:p.Leu158Gln | |
| ENST00000558770.5:c.473T>A | ENSP00000456458.1:p.Leu158Gln | |
| ENST00000562281.1:c.473T>A | ENSP00000456985.1:p.Leu158Gln | |
| ENST00000562889.5:c.659T>A | ENSP00000457180.1:p.Leu220Gln | |
| ENST00000563808.1:n.575T>A | ||
| NM_001307952.1:c.659T>A | NP_001294881.1:p.Leu220Gln | |
| NM_178232.2:c.473T>A | NP_839946.1:p.Leu158Gln | |
| NM_178232.3:c.473T>A | NP_839946.1:p.Leu158Gln | |
| XM_011521261.1:c.605T>A | XP_011519563.1:p.Leu202Gln | |
| XR_243204.1:n.688T>A | ||
| XR_931756.1:n.794T>A | ||
| XM_017021934.2:c.659T>A | XP_016877423.1:p.Leu220Gln | |
| XM_017021935.2:c.94T>A | XP_016877424.1:p.Trp32Arg | |
| XM_017021936.2:c.94T>A | XP_016877425.1:p.Trp32Arg | |
| XR_001751098.2:n.806T>A | ||
| XR_931756.3:n.807T>A | ||
| NM_001307952.2:c.659T>A | NP_001294881.1:p.Leu220Gln | |
| NM_178232.4:c.473T>A MANE Select | NP_839946.1:p.Leu158Gln |