Linked Data
ClinVar Variation Id:
197470
dbSNP Id:
rs369391284
ExAC:
17:1554463 C / T
gnomAD v2:
17-1554463-C-T
gnomAD v3:
17-1651169-C-T
gnomAD v4:
17-1651169-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.1651169C>T , CM000679.2:g.1651169C>T | GRCh38 |
| NC_000017.10:g.1554463C>T , CM000679.1:g.1554463C>T | GRCh37 |
| NC_000017.9:g.1501213C>T | NCBI36 |
| NG_009118.1:g.38714G>A | |
| NG_033061.1:g.3930G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000573725.2:c.6612G>A | ENSP00000460849.2:p.Ser2204= | |
| ENST00000703537.1:c.2540G>A | ||
| ENST00000703538.1:c.*6515G>A | ENSP00000515361.1:n.*6515G>A | |
| ENST00000703539.1:n.3106G>A | ||
| ENST00000703540.1:c.6645G>A | ENSP00000515362.1:p.Ser2215= | |
| ENST00000703541.1:c.6657G>A | ENSP00000515363.1:p.Ser2219= | |
| ENST00000304992.11:c.6792G>A MANE Select | ENSP00000304350.6:p.Ser2264= | |
| ENST00000304992.10:c.6792G>A | ENSP00000304350.6:p.Ser2264= | |
| ENST00000571958.1:c.101G>A | ||
| ENST00000572621.5:c.6792G>A | ENSP00000460348.1:p.Ser2264= | |
| ENST00000572723.1:n.781G>A | ||
| NM_006445.3:c.6792G>A | NP_006436.3:p.Ser2264= | |
| XM_024450537.1:c.6792G>A | XP_024306305.1:p.Ser2264= | |
| NM_006445.4:c.6792G>A MANE Select | NP_006436.3:p.Ser2264= |