Linked Data
ClinVar Variation Id:
722537
ClinVar RCV Id:
RCV000896187
dbSNP Id:
rs760604264
gnomAD v2:
1-26135627-C-T
gnomAD v3:
1-25809136-C-T
gnomAD v4:
1-25809136-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.25809136C>T , CM000663.2:g.25809136C>T | GRCh38 |
| NC_000001.10:g.26135627C>T , CM000663.1:g.26135627C>T | GRCh37 |
| NC_000001.9:g.26008214C>T | NCBI36 |
| NG_009930.1:g.13961C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354177.9:c.687C>T | ENSP00000346109.5:p.Tyr229= | |
| ENST00000494537.2:c.756C>T | ENSP00000508308.1:p.Tyr252= | |
| ENST00000361547.7:c.858C>T MANE Select | ENSP00000355141.2:p.Tyr286= | |
| ENST00000354177.8:c.756C>T | ENSP00000346109.4:p.Tyr252= | |
| ENST00000361547.6:c.858C>T | ENSP00000355141.2:p.Tyr286= | |
| ENST00000374315.1:c.756C>T | ENSP00000363434.1:p.Tyr252= | |
| NM_020451.2:c.858C>T | NP_065184.2:p.Tyr286= | |
| NM_206926.1:c.756C>T | NP_996809.1:p.Tyr252= | |
| NM_020451.3:c.858C>T MANE Select | NP_065184.2:p.Tyr286= | |
| NM_206926.2:c.756C>T | NP_996809.1:p.Tyr252= |