Linked Data
ClinVar Variation Id:
198215
dbSNP Id:
rs754888410
ExAC:
3:32200536 C / T
gnomAD v2:
3-32200536-C-T
gnomAD v4:
3-32159044-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.32159044C>T , CM000665.2:g.32159044C>T | GRCh38 |
| NC_000003.11:g.32200536C>T , CM000665.1:g.32200536C>T | GRCh37 |
| NC_000003.10:g.32175540C>T | NCBI36 |
| NG_023375.1:g.57534C>T , LRG_419:g.57534C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282541.10:c.787C>T MANE Select | ENSP00000282541.6:p.Leu263= | |
| ENST00000282541.9:c.787C>T | ENSP00000282541.5:p.Leu263= | |
| ENST00000428684.1:c.*414C>T | ENSP00000392199.1:n.*414C>T | |
| ENST00000474846.5:n.711C>T | ||
| ENST00000496151.1:n.288C>T | ||
| NM_015141.3:c.787C>T , LRG_419t1:c.787C>T | NP_055956.1:p.Leu263= | |
| XM_005264983.2:c.619-524C>T | XP_005265040.1:n.619-524C>T | |
| XM_006713068.2:c.646C>T | XP_006713131.1:p.Leu216= | |
| NM_015141.4:c.787C>T MANE Select | NP_055956.1:p.Leu263= |