Linked Data
ClinVar Variation Id:
11694
dbSNP Id:
rs122453121
gnomAD v4:
X-133699902-G-A
PubMed:
PMID:17850639
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.133699902G>A , CM000685.2:g.133699902G>A | GRCh38 |
| NC_000023.10:g.132833930G>A , CM000685.1:g.132833930G>A | GRCh37 |
| NC_000023.9:g.132661596G>A | NCBI36 |
| NG_009286.1:g.290737C>T , LRG_505:g.290737C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000406757.3:c.348C>T | ||
| ENST00000666673.2:n.190C>T | ||
| ENST00000684880.1:c.*747C>T | ENSP00000510280.1:n.*747C>T | |
| ENST00000689310.1:c.1111C>T | ENSP00000510438.1:p.Arg371Ter | |
| ENST00000692084.1:c.446C>T | ||
| ENST00000370818.8:c.1159C>T MANE Select | ENSP00000359854.3:p.Arg387Ter | |
| ENST00000394299.7:c.1228C>T | ENSP00000377836.2:p.Arg410Ter | |
| ENST00000666673.1:n.446C>T | ||
| ENST00000667662.1:n.226C>T | ||
| ENST00000669691.1:n.205C>T | ||
| ENST00000370818.7:c.1159C>T | ENSP00000359854.3:p.Arg387Ter | |
| ENST00000394299.6:c.1228C>T | ENSP00000377836.2:p.Arg410Ter | |
| ENST00000406757.2:c.348C>T | ||
| ENST00000631057.2:c.997C>T | ENSP00000486325.1:p.Arg333Ter | |
| NM_001164617.1:c.1228C>T | NP_001158089.1:p.Arg410Ter | |
| NM_001164618.1:c.1111C>T | NP_001158090.1:p.Arg371Ter | |
| NM_001164619.1:c.997C>T | NP_001158091.1:p.Arg333Ter | |
| NM_004484.3:c.1159C>T , LRG_505t1:c.1159C>T | NP_004475.1:p.Arg387Ter | |
| XM_017029413.2:c.1159C>T | XP_016884902.1:p.Arg387Ter | |
| NM_001164617.2:c.1228C>T | NP_001158089.1:p.Arg410Ter | |
| NM_001164618.2:c.1111C>T | NP_001158090.1:p.Arg371Ter | |
| NM_001164619.2:c.997C>T | NP_001158091.1:p.Arg333Ter | |
| NM_004484.4:c.1159C>T MANE Select | NP_004475.1:p.Arg387Ter |