Linked Data
ClinVar Variation Id:
2842004
ClinVar RCV Id:
RCV003623081
MyVariant Identifiers:
chrX:g.148571942A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.149490411A>G , CM000685.2:g.149490411A>G | GRCh38 |
| NC_000023.10:g.148571942A>G , CM000685.1:g.148571942A>G | GRCh37 |
| NC_000023.9:g.148379847A>G | NCBI36 |
| NG_011900.3:g.19924T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340855.11:c.909T>C MANE Select | ENSP00000339801.6:p.Ser303= | |
| ENST00000651111.1:c.276T>C | ENSP00000498395.1:p.Ser92= | |
| ENST00000340855.10:c.909T>C | ENSP00000339801.6:p.Ser303= | |
| ENST00000370441.8:c.909T>C | ENSP00000359470.4:p.Ser303= | |
| ENST00000422081.6:c.276T>C | ENSP00000477056.1:p.Ser92= | |
| ENST00000441880.1:n.114-3313T>C | ||
| ENST00000464251.5:c.835T>C | ENSP00000428980.1:n.835T>C | |
| ENST00000466323.5:c.*100T>C | ENSP00000418264.1:n.*100T>C | |
| ENST00000490775.5:n.694T>C | ||
| NM_000202.6:c.909T>C | NP_000193.1:p.Ser303= | |
| NM_001166550.2:c.639T>C | NP_001160022.1:p.Ser213= | |
| NM_006123.4:c.909T>C | NP_006114.1:p.Ser303= | |
| NR_104128.1:n.1256T>C | ||
| NM_000202.7:c.909T>C | NP_000193.1:p.Ser303= | |
| NM_001166550.3:c.639T>C | NP_001160022.1:p.Ser213= | |
| NM_000202.8:c.909T>C MANE Select | NP_000193.1:p.Ser303= | |
| NM_001166550.4:c.639T>C | NP_001160022.1:p.Ser213= | |
| NM_006123.5:c.909T>C | NP_006114.1:p.Ser303= | |
| NR_104128.2:n.1208T>C |