Linked Data
ClinVar Variation Id:
2738905
ClinVar RCV Id:
RCV003509137
MyVariant Identifiers:
chrX:g.148568571G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.149487040G>A , CM000685.2:g.149487040G>A | GRCh38 |
| NC_000023.10:g.148568571G>A , CM000685.1:g.148568571G>A | GRCh37 |
| NC_000023.9:g.148376476G>A | NCBI36 |
| NG_011900.3:g.23295C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340855.11:c.1065C>T MANE Select | ENSP00000339801.6:p.Thr355= | |
| ENST00000651111.1:c.432C>T | ENSP00000498395.1:p.Thr144= | |
| ENST00000340855.10:c.1065C>T | ENSP00000339801.6:p.Thr355= | |
| ENST00000422081.6:c.432C>T | ENSP00000477056.1:p.Thr144= | |
| ENST00000441880.1:n.172C>T | ||
| NM_000202.6:c.1065C>T | NP_000193.1:p.Thr355= | |
| NM_001166550.2:c.795C>T | NP_001160022.1:p.Thr265= | |
| NM_000202.7:c.1065C>T | NP_000193.1:p.Thr355= | |
| NM_001166550.3:c.795C>T | NP_001160022.1:p.Thr265= | |
| NM_000202.8:c.1065C>T MANE Select | NP_000193.1:p.Thr355= | |
| NM_001166550.4:c.795C>T | NP_001160022.1:p.Thr265= |