Linked Data
ClinVar Variation Id:
489131
ClinVar RCV Id:
RCV000578765
dbSNP Id:
rs781987043
ExAC:
X:48760341 C / T
gnomAD v2:
X-48760341-C-T
gnomAD v3:
X-48903064-C-T
gnomAD v4:
X-48903064-C-T
COSMIC:
COSM4389258
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48903064C>T , CM000685.2:g.48903064C>T | GRCh38 |
| NC_000023.10:g.48760341C>T , CM000685.1:g.48760341C>T | GRCh37 |
| NC_000023.9:g.48645285C>T | NCBI36 |
| NG_015967.1:g.10147C>T | |
| NG_015968.2:g.86G>A | |
| NG_034300.1:g.13895G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218224.9:c.778C>T | ENSP00000218224.4:p.Arg260Ter | |
| ENST00000376563.6:c.778C>T | ENSP00000365747.1:p.Arg260Ter | |
| ENST00000396763.6:c.778C>T | ENSP00000379985.1:p.Arg260Ter | |
| ENST00000443648.6:c.778C>T | ENSP00000414861.2:p.Arg260Ter | |
| ENST00000456306.2:c.169C>T | ENSP00000393013.2:p.Arg57Ter | |
| ENST00000472742.6:c.*195C>T | ENSP00000509191.1:n.*195C>T | |
| ENST00000474671.6:n.1933C>T | ||
| ENST00000477997.6:n.1727C>T | ||
| ENST00000486150.6:n.2033C>T | ||
| ENST00000692023.1:c.*1199C>T | ENSP00000509927.1:n.*1199C>T | |
| ENST00000447146.7:c.778C>T MANE Select | ENSP00000391759.2:p.Arg260Ter | |
| ENST00000651767.1:c.778C>T | ENSP00000498362.1:p.Arg260Ter | |
| ENST00000218224.8:c.778C>T | ENSP00000218224.4:p.Arg260Ter | |
| ENST00000247140.8:c.493C>T | ENSP00000247140.4:p.Arg165Ter | |
| ENST00000376563.5:c.778C>T | ENSP00000365747.1:p.Arg260Ter | |
| ENST00000376566.8:c.493C>T | ENSP00000365750.4:p.Arg165Ter | |
| ENST00000396763.5:c.778C>T | ENSP00000379985.1:p.Arg260Ter | |
| ENST00000447146.6:c.778C>T | ENSP00000391759.2:p.Arg260Ter | |
| ENST00000463529.4:n.1124C>T | ||
| ENST00000465859.2:n.792C>T | ||
| ENST00000470059.5:n.992C>T | ||
| ENST00000470062.5:n.750C>T | ||
| ENST00000473764.5:n.1350C>T | ||
| ENST00000474671.5:n.838C>T | ||
| ENST00000477997.5:n.859C>T | ||
| NM_001032381.1:c.778C>T | NP_001027553.1:p.Arg260Ter | |
| NM_001032382.1:c.778C>T | NP_001027554.1:p.Arg260Ter | |
| NM_001032383.1:c.778C>T | NP_001027555.1:p.Arg260Ter | |
| NM_001032384.1:c.778C>T | NP_001027556.1:p.Arg260Ter | |
| NM_001167989.1:c.775C>T | NP_001161461.1:p.Arg259Ter | |
| NM_001167990.1:c.754C>T | NP_001161462.1:p.Arg252Ter | |
| NM_001167992.1:c.478C>T | NP_001161464.1:p.Arg160Ter | |
| NM_005710.2:c.778C>T | NP_005701.1:p.Arg260Ter | |
| NM_144495.2:c.493C>T | NP_652766.1:p.Arg165Ter | |
| XM_005272571.3:c.775C>T | XP_005272628.1:p.Arg259Ter | |
| XM_005272572.3:c.493C>T | XP_005272629.1:p.Arg165Ter | |
| XM_011543884.1:c.778C>T | XP_011542186.1:p.Arg260Ter | |
| XM_005272572.4:c.493C>T | XP_005272629.1:p.Arg165Ter | |
| XM_011543884.2:c.778C>T | XP_011542186.1:p.Arg260Ter | |
| XM_017029207.1:c.775C>T | XP_016884696.1:p.Arg259Ter | |
| NM_001032381.2:c.778C>T | NP_001027553.1:p.Arg260Ter | |
| NM_001032382.2:c.778C>T MANE Select | NP_001027554.1:p.Arg260Ter | |
| NM_001032383.2:c.778C>T | NP_001027555.1:p.Arg260Ter | |
| NM_001167989.2:c.775C>T | NP_001161461.1:p.Arg259Ter | |
| NM_001167990.2:c.754C>T | NP_001161462.1:p.Arg252Ter | |
| NM_144495.3:c.493C>T | NP_652766.1:p.Arg165Ter |