Linked Data
ClinVar Variation Id:
403943
ClinVar RCV Id:
RCV000472278
dbSNP Id:
rs1060500039
gnomAD v4:
2-73453771-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73453771C>A , CM000664.2:g.73453771C>A | GRCh38 |
| NC_000002.11:g.73680898C>A , CM000664.1:g.73680898C>A | GRCh37 |
| NC_000002.10:g.73534406C>A | NCBI36 |
| NG_011690.1:g.73019C>A , LRG_741:g.73019C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.6863C>A | ENSP00000507671.1:p.Ser2288Ter | |
| ENST00000682801.1:c.6863C>A | ENSP00000507862.1:p.Ser2288Ter | |
| ENST00000682859.1:c.6863C>A | ENSP00000508222.1:p.Ser2288Ter | |
| ENST00000683791.1:c.685+21480C>A | ||
| ENST00000684197.1:n.2213C>A | ||
| ENST00000684460.1:c.4315C>A | ||
| ENST00000684548.1:c.6863C>A | ENSP00000507421.1:p.Ser2288Ter | |
| ENST00000684590.1:c.1361C>A | ENSP00000507376.1:p.Ser454Ter | |
| ENST00000684656.1:c.4315C>A | ||
| ENST00000613296.6:c.7244C>A MANE Select | ENSP00000482968.1:p.Ser2415Ter | |
| ENST00000651434.1:c.465C>A | ||
| ENST00000423048.5:c.2075C>A | ENSP00000399833.1:p.Ser692Ter | |
| ENST00000484298.5:c.7118C>A | ENSP00000478155.1:p.Ser2373Ter | |
| ENST00000613296.4:c.7244C>A | ENSP00000482968.1:p.Ser2415Ter | |
| ENST00000614410.4:c.7244C>A | ENSP00000479094.1:p.Ser2415Ter | |
| ENST00000620466.4:n.1047C>A | ||
| NM_015120.4:c.7247C>A , LRG_741t1:c.7247C>A | NP_055935.4:p.Ser2416Ter | |
| NM_001378454.1:c.7244C>A MANE Select | NP_001365383.1:p.Ser2415Ter |