Linked Data
ClinVar Variation Id:
713827
ClinVar RCV Id:
RCV000886025
dbSNP Id:
rs5030716
ExAC:
9:120475735 C / T
gnomAD v2:
9-120475735-C-T
gnomAD v3:
9-117713457-C-T
gnomAD v4:
9-117713457-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.117713457C>T , CM000671.2:g.117713457C>T | GRCh38 |
| NC_000009.11:g.120475735C>T , CM000671.1:g.120475735C>T | GRCh37 |
| NC_000009.10:g.119515556C>T | NCBI36 |
| NG_011475.1:g.14276C>T | |
| NG_011475.2:g.14055C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646089.2:c.93+8892C>T | ENSP00000496197.1:n.93+8892C>T | |
| ENST00000697624.1:n.200+8892C>T | ||
| ENST00000697625.1:c.93+8892C>T | ENSP00000513362.1:n.93+8892C>T | |
| ENST00000697636.1:c.93+8892C>T | ENSP00000513366.1:n.93+8892C>T | |
| ENST00000697637.1:c.93+8892C>T | ENSP00000513367.1:n.93+8892C>T | |
| ENST00000697664.1:c.140+4728C>T | ENSP00000513389.1:n.140+4728C>T | |
| ENST00000697665.1:c.93+8892C>T | ENSP00000513390.1:n.93+8892C>T | |
| ENST00000697666.1:c.140+4728C>T | ENSP00000513391.1:n.140+4728C>T | |
| ENST00000355622.8:c.1329C>T MANE Select | ENSP00000363089.5:p.Phe443= | |
| ENST00000394487.5:c.1209C>T | ENSP00000377997.4:p.Phe403= | |
| ENST00000472304.2:c.*1063C>T | ENSP00000496429.1:n.*1063C>T | |
| ENST00000642985.1:c.260+4728C>T | ENSP00000493686.1:n.260+4728C>T | |
| ENST00000646089.1:c.93+8892C>T | ENSP00000496197.1:n.93+8892C>T | |
| ENST00000665764.1:c.93+8892C>T | ENSP00000499745.1:n.93+8892C>T | |
| ENST00000355622.6:c.1329C>T | ENSP00000363089.5:p.Phe443= | |
| ENST00000394487.4:c.1209C>T | ENSP00000377997.4:p.Phe403= | |
| ENST00000472304.1:n.1246C>T | ||
| NM_003266.3:c.1209C>T | NP_003257.1:p.Phe403= | |
| NM_138554.4:c.1329C>T | NP_612564.1:p.Phe443= | |
| NM_138557.2:c.729C>T | NP_612567.1:p.Phe243= | |
| NM_138554.5:c.1329C>T MANE Select | NP_612564.1:p.Phe443= | |
| NM_003266.4:c.1209C>T | NP_003257.1:p.Phe403= | |
| NM_138557.3:c.729C>T | NP_612567.1:p.Phe243= |