Linked Data
ClinVar Variation Id:
2759066
ClinVar RCV Id:
RCV003510107
MyVariant Identifiers:
chrX:g.148564727C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.149483196C>T , CM000685.2:g.149483196C>T | GRCh38 |
| NC_000023.10:g.148564727C>T , CM000685.1:g.148564727C>T | GRCh37 |
| NC_000023.9:g.148372632C>T | NCBI36 |
| NG_011900.3:g.27139G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340855.11:c.1203G>A MANE Select | ENSP00000339801.6:p.Val401= | |
| ENST00000651111.1:c.570G>A | ENSP00000498395.1:p.Val190= | |
| ENST00000340855.10:c.1203G>A | ENSP00000339801.6:p.Val401= | |
| ENST00000422081.6:c.570G>A | ENSP00000477056.1:p.Val190= | |
| ENST00000441880.1:n.310G>A | ||
| NM_000202.6:c.1203G>A | NP_000193.1:p.Val401= | |
| NM_001166550.2:c.933G>A | NP_001160022.1:p.Val311= | |
| NM_000202.7:c.1203G>A | NP_000193.1:p.Val401= | |
| NM_001166550.3:c.933G>A | NP_001160022.1:p.Val311= | |
| NM_000202.8:c.1203G>A MANE Select | NP_000193.1:p.Val401= | |
| NM_001166550.4:c.933G>A | NP_001160022.1:p.Val311= |