Linked Data
ClinVar Variation Id:
200843
dbSNP Id:
rs794728527
gnomAD v2:
11-2610074-T-A
gnomAD v4:
11-2588844-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2588844T>A , CM000673.2:g.2588844T>A | GRCh38 |
| NC_000011.9:g.2610074T>A , CM000673.1:g.2610074T>A | GRCh37 |
| NC_000011.8:g.2566650T>A | NCBI36 |
| NG_008935.1:g.148854T>A , LRG_287:g.148854T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.1026T>A | ENSP00000434560.2:p.Tyr342Ter | |
| ENST00000646564.2:c.843T>A | ENSP00000495806.2:p.Tyr281Ter | |
| ENST00000155840.12:c.1383T>A MANE Select | ENSP00000155840.2:p.Tyr461Ter | |
| ENST00000335475.6:c.1002T>A | ENSP00000334497.5:p.Tyr334Ter | |
| ENST00000646564.1:c.489T>A | ENSP00000495806.1:p.Tyr163Ter | |
| ENST00000155840.9:c.1383T>A | ENSP00000155840.2:p.Tyr461Ter | |
| ENST00000335475.5:c.1002T>A | ENSP00000334497.5:p.Tyr334Ter | |
| NM_000218.2:c.1383T>A , LRG_287t1:c.1383T>A | NP_000209.2:p.Tyr461Ter | |
| NM_181798.1:c.1002T>A , LRG_287t2:c.1002T>A | NP_861463.1:p.Tyr334Ter | |
| NM_000218.3:c.1383T>A MANE Select | NP_000209.2:p.Tyr461Ter |