Linked Data
ClinVar Variation Id:
1022406
dbSNP Id:
rs748390368
ExAC:
15:38643747 C / T
gnomAD v2:
15-38643747-C-T
gnomAD v3:
15-38351546-C-T
gnomAD v4:
15-38351546-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.38351546C>T , CM000677.2:g.38351546C>T | GRCh38 |
| NC_000015.9:g.38643747C>T , CM000677.1:g.38643747C>T | GRCh37 |
| NC_000015.8:g.36431039C>T | NCBI36 |
| NG_008980.1:g.103696C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299084.9:c.1217C>T MANE Select | ENSP00000299084.4:p.Ala406Val | |
| ENST00000299084.8:c.1217C>T | ENSP00000299084.4:p.Ala406Val | |
| NM_152594.2:c.1217C>T | NP_689807.1:p.Ala406Val | |
| XM_005254202.2:c.1253C>T | XP_005254259.1:p.Ala418Val | |
| XM_005254203.3:c.995C>T | XP_005254260.1:p.Ala332Val | |
| XM_011521288.1:c.1154C>T | XP_011519590.1:p.Ala385Val | |
| XM_011521289.1:c.1154C>T | XP_011519591.1:p.Ala385Val | |
| XM_011521290.1:c.1154C>T | XP_011519592.1:p.Ala385Val | |
| XM_005254202.3:c.1253C>T | XP_005254259.1:p.Ala418Val | |
| XM_011521289.3:c.1154C>T | XP_011519591.1:p.Ala385Val | |
| NM_152594.3:c.1217C>T MANE Select | NP_689807.1:p.Ala406Val |