Linked Data
ClinVar Variation Id:
754927
dbSNP Id:
rs144221016
ExAC:
10:8100320 C / T
gnomAD v2:
10-8100320-C-T
gnomAD v3:
10-8058357-C-T
gnomAD v4:
10-8058357-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.8058357C>T , CM000672.2:g.8058357C>T | GRCh38 |
| NC_000010.10:g.8100320C>T , CM000672.1:g.8100320C>T | GRCh37 |
| NC_000010.9:g.8140326C>T | NCBI36 |
| NG_015859.1:g.8654C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346208.4:c.294C>T | ENSP00000341619.3:p.Asp98= | |
| ENST00000379328.9:c.294C>T MANE Select | ENSP00000368632.3:p.Asp98= | |
| ENST00000481743.2:c.294C>T | ENSP00000493486.1:p.Asp98= | |
| ENST00000346208.3:c.294C>T | ENSP00000341619.3:p.Asp98= | |
| ENST00000379328.7:c.294C>T | ENSP00000368632.3:p.Asp98= | |
| NM_001002295.1:c.294C>T | NP_001002295.1:p.Asp98= | |
| NM_002051.2:c.294C>T | NP_002042.1:p.Asp98= | |
| XM_005252442.2:c.294C>T | XP_005252499.1:p.Asp98= | |
| XM_005252443.3:c.294C>T | XP_005252500.1:p.Asp98= | |
| XM_005252443.5:c.294C>T | XP_005252500.1:p.Asp98= | |
| NM_001002295.2:c.294C>T MANE Select | NP_001002295.1:p.Asp98= | |
| NM_002051.3:c.294C>T | NP_002042.1:p.Asp98= |