Linked Data
ClinVar Variation Id:
1550632
ClinVar RCV Id:
RCV002189800
dbSNP Id:
rs1332930442
gnomAD v2:
6-57055391-A-G
gnomAD v3:
6-57190593-A-G
gnomAD v4:
6-57190593-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.57190593A>G , CM000668.2:g.57190593A>G | GRCh38 |
| NC_000006.11:g.57055391A>G , CM000668.1:g.57055391A>G | GRCh37 |
| NC_000006.10:g.57163350A>G | NCBI36 |
| NG_012170.1:g.36688T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000468148.6:c.582T>C MANE Select | ENSP00000417610.1:p.Phe194= | |
| ENST00000317483.4:c.582T>C | ENSP00000320413.3:p.Phe194= | |
| ENST00000468148.5:c.582T>C | ENSP00000417610.1:p.Phe194= | |
| NM_001278666.1:c.582T>C | NP_001265595.1:p.Phe194= | |
| NM_001278667.1:c.582T>C | NP_001265596.1:p.Phe194= | |
| NM_001278668.1:c.582T>C | NP_001265597.1:p.Phe194= | |
| NM_016277.4:c.582T>C | NP_057361.3:p.Phe194= | |
| NM_183227.2:c.582T>C | NP_899050.1:p.Phe194= | |
| NR_103822.1:n.441T>C | ||
| NM_016277.5:c.582T>C MANE Select | NP_057361.3:p.Phe194= | |
| NM_001278666.2:c.582T>C | NP_001265595.1:p.Phe194= | |
| NM_001278667.2:c.582T>C | NP_001265596.1:p.Phe194= | |
| NM_001278668.2:c.582T>C | NP_001265597.1:p.Phe194= | |
| NM_183227.3:c.582T>C | NP_899050.1:p.Phe194= | |
| NR_103822.2:n.434T>C |