Linked Data
ClinVar Variation Id:
291265
ClinVar RCV Id:
RCV000375480
dbSNP Id:
rs762796693
ExAC:
10:91007395 C / T
gnomAD v2:
10-91007395-C-T
gnomAD v3:
10-89247638-C-T
gnomAD v4:
10-89247638-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.89247638C>T , CM000672.2:g.89247638C>T | GRCh38 |
| NC_000010.10:g.91007395C>T , CM000672.1:g.91007395C>T | GRCh37 |
| NC_000010.9:g.90997375C>T | NCBI36 |
| NG_008194.1:g.9266G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336233.10:c.11G>A MANE Select | ENSP00000337354.5:p.Arg4Gln | |
| ENST00000282673.5:c.11G>A | ENSP00000282673.4:p.Arg4Gln | |
| ENST00000336233.9:c.11G>A | ENSP00000337354.5:p.Arg4Gln | |
| ENST00000371837.5:c.62-19240G>A | ENSP00000360903.1:n.62-19240G>A | |
| ENST00000428800.5:c.11G>A | ENSP00000388415.1:p.Arg4Gln | |
| ENST00000456827.5:c.-120+4099G>A | ENSP00000413019.2:n.-120+4099G>A | |
| NM_000235.3:c.11G>A | NP_000226.2:p.Arg4Gln | |
| NM_001127605.2:c.11G>A | NP_001121077.1:p.Arg4Gln | |
| NM_001288979.1:c.-120+4099G>A | NP_001275908.1:n.-120+4099G>A | |
| XM_024448023.1:c.11G>A | XP_024303791.1:p.Arg4Gln | |
| NM_000235.4:c.11G>A MANE Select | NP_000226.2:p.Arg4Gln | |
| NM_001127605.3:c.11G>A | NP_001121077.1:p.Arg4Gln | |
| NM_001288979.2:c.-120+4099G>A | NP_001275908.1:n.-120+4099G>A |