Linked Data
ClinVar Variation Id:
2698087
ClinVar RCV Id:
RCV003589595
dbSNP Id:
rs369046420
ExAC:
X:153132192 G / A
gnomAD v2:
X-153132192-G-A
gnomAD v4:
X-153866737-G-A
COSMIC:
COSM5533602
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153866737G>A , CM000685.2:g.153866737G>A | GRCh38 |
| NC_000023.10:g.153132192G>A , CM000685.1:g.153132192G>A | GRCh37 |
| NC_000023.9:g.152785386G>A | NCBI36 |
| NG_009645.3:g.47487C>T | |
| NG_009645.4:g.24437C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370060.7:c.2343C>T MANE Select | ENSP00000359077.1:p.Phe781= | |
| ENST00000361699.8:c.2343C>T | ENSP00000355380.4:p.Phe781= | |
| ENST00000361981.7:c.2328C>T | ENSP00000354712.3:p.Phe776= | |
| ENST00000370055.5:c.2328C>T | ENSP00000359072.1:p.Phe776= | |
| ENST00000370060.5:c.2343C>T | ENSP00000359077.1:p.Phe781= | |
| NM_000425.4:c.2343C>T | NP_000416.1:p.Phe781= | |
| NM_001143963.2:c.2328C>T | NP_001137435.1:p.Phe776= | |
| NM_001278116.1:c.2343C>T | NP_001265045.1:p.Phe781= | |
| NM_024003.3:c.2343C>T | NP_076493.1:p.Phe781= | |
| NM_000425.5:c.2343C>T | NP_000416.1:p.Phe781= | |
| NM_001278116.2:c.2343C>T MANE Select | NP_001265045.1:p.Phe781= |