Linked Data
ClinVar Variation Id:
10139
ClinVar RCV Id:
RCV000010852
dbSNP Id:
rs137852368
ExAC:
X:154194909 G / A
gnomAD v2:
X-154194909-G-A
ERepo:
CA255031/MONDO:0010602/071
PubMed:
PMID:2987704
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154966634G>A , CM000685.2:g.154966634G>A | GRCh38 |
| NC_000023.10:g.154194909G>A , CM000685.1:g.154194909G>A | GRCh37 |
| NC_000023.9:g.153848103G>A | NCBI36 |
| NG_011403.1:g.61090C>T | |
| NG_011403.2:g.61090C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.1063C>T MANE Select | ENSP00000353393.4:p.Arg355Ter | |
| ENST00000647125.1:c.*939C>T | ENSP00000496062.1:n.*939C>T | |
| ENST00000360256.8:c.1063C>T | ENSP00000353393.4:p.Arg355Ter | |
| NM_000132.3:c.1063C>T | NP_000123.1:p.Arg355Ter | |
| XM_011531126.1:c.958C>T | XP_011529428.1:p.Arg320Ter | |
| NM_000132.4:c.1063C>T MANE Select | NP_000123.1:p.Arg355Ter |