Linked Data
ClinVar Variation Id:
305239
dbSNP Id:
rs765990518
ExAC:
11:64367222 A / T
gnomAD v2:
11-64367222-A-T
gnomAD v3:
11-64599750-A-T
gnomAD v4:
11-64599750-A-T
COSMIC:
COSM6301250
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64599750A>T , CM000673.2:g.64599750A>T | GRCh38 |
| NC_000011.9:g.64367222A>T , CM000673.1:g.64367222A>T | GRCh37 |
| NC_000011.8:g.64123798A>T | NCBI36 |
| NG_008110.1:g.13941A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377574.6:c.1145A>T MANE Select | ENSP00000366797.1:p.Gln382Leu | |
| ENST00000336464.7:c.1043A>T | ENSP00000336836.7:p.Gln348Leu | |
| ENST00000377567.6:c.821A>T | ENSP00000366790.2:p.Gln274Leu | |
| ENST00000377572.5:c.821A>T | ENSP00000366795.1:p.Gln274Leu | |
| ENST00000377574.5:c.1145A>T | ENSP00000366797.1:p.Gln382Leu | |
| ENST00000473690.5:c.482A>T | ENSP00000438437.1:p.Gln161Leu | |
| NM_001276326.1:c.1043A>T | NP_001263255.1:p.Gln348Leu | |
| NM_001276327.1:c.821A>T | NP_001263256.1:p.Gln274Leu | |
| NM_144585.3:c.1145A>T | NP_653186.2:p.Gln382Leu | |
| NM_153378.2:c.482A>T | NP_700357.1:p.Gln161Leu | |
| XM_006718430.2:c.1220A>T | XP_006718493.1:p.Gln407Leu | |
| XM_006718431.2:c.1115A>T | XP_006718494.1:p.Gln372Leu | |
| XM_006718430.4:c.1220A>T | XP_006718493.1:p.Gln407Leu | |
| XM_006718431.4:c.1115A>T | XP_006718494.1:p.Gln372Leu | |
| NM_144585.4:c.1145A>T MANE Select | NP_653186.2:p.Gln382Leu | |
| NM_001276326.2:c.1043A>T | NP_001263255.1:p.Gln348Leu | |
| NM_153378.3:c.482A>T | NP_700357.1:p.Gln161Leu | |
| NM_001276327.2:c.821A>T | NP_001263256.1:p.Gln274Leu |