Linked Data
ClinVar Variation Id:
2359
ClinVar RCV Id:
RCV000002453
RCV000224697
RCV000504809
RCV000778222
RCV000824795
RCV000984315
RCV001074823
RCV002482817
dbSNP Id:
rs121912600
ExAC:
1:216497582 C / A
gnomAD v2:
1-216497582-C-A
gnomAD v3:
1-216324240-C-A
gnomAD v4:
1-216324240-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.216324240C>A , CM000663.2:g.216324240C>A | GRCh38 |
| NC_000001.10:g.216497582C>A , CM000663.1:g.216497582C>A | GRCh37 |
| NC_000001.9:g.214564205C>A | NCBI36 |
| NG_009497.1:g.104157G>T | |
| NG_009497.2:g.104209G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307340.8:c.1256G>T MANE Select | ENSP00000305941.3:p.Cys419Phe | |
| ENST00000674083.1:c.1256G>T | ENSP00000501296.1:p.Cys419Phe | |
| ENST00000307340.7:c.1256G>T | ENSP00000305941.3:p.Cys419Phe | |
| ENST00000366942.3:c.1256G>T | ENSP00000355909.3:p.Cys419Phe | |
| NM_007123.5:c.1256G>T | NP_009054.5:p.Cys419Phe | |
| NM_206933.2:c.1256G>T | NP_996816.2:p.Cys419Phe | |
| NM_206933.3:c.1256G>T | NP_996816.2:p.Cys419Phe | |
| NM_007123.6:c.1256G>T | NP_009054.6:p.Cys419Phe | |
| NM_206933.4:c.1256G>T MANE Select | NP_996816.3:p.Cys419Phe |