Linked Data
ClinVar Variation Id:
2843128
dbSNP Id:
rs372910652
ExAC:
10:60556165 C / T
gnomAD v2:
10-60556165-C-T
gnomAD v3:
10-58796405-C-T
gnomAD v4:
10-58796405-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.58796405C>T , CM000672.2:g.58796405C>T | GRCh38 |
| NC_000010.10:g.60556165C>T , CM000672.1:g.60556165C>T | GRCh37 |
| NC_000010.9:g.60226171C>T | NCBI36 |
| NG_029759.2:g.288262C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373886.8:c.1245C>T MANE Select | ENSP00000362993.3:p.Leu415= | |
| ENST00000263103.1:c.123C>T | ENSP00000263103.1:p.Leu41= | |
| ENST00000373886.7:c.1245C>T | ENSP00000362993.3:p.Leu415= | |
| NM_001080512.2:c.1245C>T | NP_001073981.1:p.Leu415= | |
| XM_005270169.3:c.1104C>T | XP_005270226.1:p.Leu368= | |
| XM_011540185.1:c.1317C>T | XP_011538487.1:p.Leu439= | |
| XM_011540186.1:c.1317C>T | XP_011538488.1:p.Leu439= | |
| XM_011540187.1:c.1317C>T | XP_011538489.1:p.Leu439= | |
| XM_011540188.1:c.1101C>T | XP_011538490.1:p.Leu367= | |
| XM_011540189.1:c.1089C>T | XP_011538491.1:p.Leu363= | |
| XM_011540190.1:c.1005C>T | XP_011538492.1:p.Leu335= | |
| XM_011540191.1:c.861C>T | XP_011538493.1:p.Leu287= | |
| XM_005270169.5:c.1104C>T | XP_005270226.1:p.Leu368= | |
| XM_011540185.2:c.1317C>T | XP_011538487.1:p.Leu439= | |
| XM_011540190.3:c.1005C>T | XP_011538492.1:p.Leu335= | |
| XM_011540191.2:c.861C>T | XP_011538493.1:p.Leu287= | |
| XM_017016677.1:c.1113C>T | XP_016872166.1:p.Leu371= | |
| XM_017016678.1:c.1101C>T | XP_016872167.1:p.Leu367= | |
| XM_024448174.1:c.1332C>T | XP_024303942.1:p.Leu444= | |
| XM_024448175.1:c.1005C>T | XP_024303943.1:p.Leu335= | |
| NM_001080512.3:c.1245C>T MANE Select | NP_001073981.1:p.Leu415= |