Linked Data
ClinVar Variation Id:
988688
ClinVar RCV Id:
RCV001291012
dbSNP Id:
rs104894853
gnomAD v4:
X-149490322-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.149490322G>T , CM000685.2:g.149490322G>T | GRCh38 |
| NC_000023.10:g.148571853G>T , CM000685.1:g.148571853G>T | GRCh37 |
| NC_000023.9:g.148379758G>T | NCBI36 |
| NG_011900.3:g.20013C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340855.11:c.998C>A MANE Select | ENSP00000339801.6:p.Ser333Ter | |
| ENST00000651111.1:c.365C>A | ENSP00000498395.1:p.Ser122Ter | |
| ENST00000340855.10:c.998C>A | ENSP00000339801.6:p.Ser333Ter | |
| ENST00000370441.8:c.998C>A | ENSP00000359470.4:p.Ser333Ter | |
| ENST00000422081.6:c.365C>A | ENSP00000477056.1:p.Ser122Ter | |
| ENST00000441880.1:n.114-3224C>A | ||
| ENST00000464251.5:c.924C>A | ENSP00000428980.1:n.924C>A | |
| ENST00000466323.5:c.*189C>A | ENSP00000418264.1:n.*189C>A | |
| ENST00000490775.5:n.783C>A | ||
| NM_000202.6:c.998C>A | NP_000193.1:p.Ser333Ter | |
| NM_001166550.2:c.728C>A | NP_001160022.1:p.Ser243Ter | |
| NM_006123.4:c.998C>A | NP_006114.1:p.Ser333Ter | |
| NR_104128.1:n.1345C>A | ||
| NM_000202.7:c.998C>A | NP_000193.1:p.Ser333Ter | |
| NM_001166550.3:c.728C>A | NP_001160022.1:p.Ser243Ter | |
| NM_000202.8:c.998C>A MANE Select | NP_000193.1:p.Ser333Ter | |
| NM_001166550.4:c.728C>A | NP_001160022.1:p.Ser243Ter | |
| NM_006123.5:c.998C>A | NP_006114.1:p.Ser333Ter | |
| NR_104128.2:n.1297C>A |