Linked Data
ClinVar Variation Id:
10247
ClinVar RCV Id:
RCV000010960
dbSNP Id:
rs28937285
gnomAD v2:
X-154159850-C-T
gnomAD v3:
X-154931575-C-T
gnomAD v4:
X-154931575-C-T
ERepo:
CA255139/MONDO:0010602/071
PubMed:
PMID:7728145
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154931575C>T , CM000685.2:g.154931575C>T | GRCh38 |
| NC_000023.10:g.154159850C>T , CM000685.1:g.154159850C>T | GRCh37 |
| NC_000023.9:g.153813044C>T | NCBI36 |
| NG_011403.1:g.96149G>A | |
| NG_011403.2:g.96149G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.2215G>A MANE Select | ENSP00000353393.4:p.Glu739Lys | |
| ENST00000647125.1:c.*1881G>A | ENSP00000496062.1:n.*1881G>A | |
| ENST00000360256.8:c.2215G>A | ENSP00000353393.4:p.Glu739Lys | |
| NM_000132.3:c.2215G>A | NP_000123.1:p.Glu739Lys | |
| XM_011531126.1:c.2110G>A | XP_011529428.1:p.Glu704Lys | |
| NM_000132.4:c.2215G>A MANE Select | NP_000123.1:p.Glu739Lys |