Linked Data
ClinVar Variation Id:
1098115
ClinVar RCV Id:
RCV001419955
dbSNP Id:
rs201935680
ExAC:
9:34489347 T / C
gnomAD v2:
9-34489347-T-C
gnomAD v3:
9-34489349-T-C
gnomAD v4:
9-34489349-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34489349T>C , CM000671.2:g.34489349T>C | GRCh38 |
| NC_000009.11:g.34489347T>C , CM000671.1:g.34489347T>C | GRCh37 |
| NC_000009.10:g.34479347T>C | NCBI36 |
| NG_008127.1:g.35537T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242317.9:c.288T>C MANE Select | ENSP00000242317.4:p.Phe96= | |
| ENST00000242317.8:c.288T>C | ENSP00000242317.4:p.Phe96= | |
| ENST00000437363.5:c.255T>C | ENSP00000395396.1:p.Phe85= | |
| ENST00000488369.1:n.404T>C | ||
| ENST00000614641.4:c.288T>C | ENSP00000480538.1:p.Phe96= | |
| NM_001281428.1:c.288T>C | NP_001268357.1:p.Phe96= | |
| NM_012144.3:c.288T>C | NP_036276.1:p.Phe96= | |
| XM_011517846.1:c.288T>C | XP_011516148.1:p.Phe96= | |
| XM_011517847.1:c.288T>C | XP_011516149.1:p.Phe96= | |
| XM_011517848.1:c.288T>C | XP_011516150.1:p.Phe96= | |
| XM_011517849.1:c.288T>C | XP_011516151.1:p.Phe96= | |
| XM_011517850.1:c.288T>C | XP_011516152.1:p.Phe96= | |
| XR_929232.1:n.542T>C | ||
| XR_929233.1:n.542T>C | ||
| XR_929235.1:n.542T>C | ||
| XM_006716758.3:c.-189T>C | XP_006716821.1:n.-189T>C | |
| XM_011517846.2:c.288T>C | XP_011516148.1:p.Phe96= | |
| XM_011517847.3:c.288T>C | XP_011516149.1:p.Phe96= | |
| XM_011517848.2:c.288T>C | XP_011516150.1:p.Phe96= | |
| XM_011517849.2:c.288T>C | XP_011516151.1:p.Phe96= | |
| XM_011517850.3:c.288T>C | XP_011516152.1:p.Phe96= | |
| XM_017014625.2:c.288T>C | XP_016870114.1:p.Phe96= | |
| XR_002956774.1:n.489T>C | ||
| XR_929232.2:n.489T>C | ||
| XR_929233.2:n.489T>C | ||
| NM_012144.4:c.288T>C MANE Select | NP_036276.1:p.Phe96= | |
| NM_001281428.2:c.288T>C | NP_001268357.1:p.Phe96= |