Linked Data
ClinVar Variation Id:
1691072
dbSNP Id:
rs144688481
ExAC:
X:43591078 G / T
gnomAD v2:
X-43591078-G-T
gnomAD v3:
X-43731831-G-T
gnomAD v4:
X-43731831-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.43731831G>T , CM000685.2:g.43731831G>T | GRCh38 |
| NC_000023.10:g.43591078G>T , CM000685.1:g.43591078G>T | GRCh37 |
| NC_000023.9:g.43476022G>T | NCBI36 |
| NG_008957.2:g.80671G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000542639.6:c.534G>T | ENSP00000440846.1:p.Lys178Asn | |
| ENST00000686683.1:c.243G>T | ENSP00000509063.1:p.Lys81Asn | |
| ENST00000686980.1:n.1065G>T | ||
| ENST00000688006.1:c.534G>T | ENSP00000510311.1:p.Lys178Asn | |
| ENST00000688859.1:n.489G>T | ||
| ENST00000689087.1:c.534G>T | ENSP00000508997.1:p.Lys178Asn | |
| ENST00000693128.1:c.828G>T | ENSP00000508493.1:p.Lys276Asn | |
| ENST00000338702.4:c.933G>T MANE Select | ENSP00000340684.3:p.Lys311Asn | |
| ENST00000338702.3:c.933G>T | ENSP00000340684.3:p.Lys311Asn | |
| ENST00000542639.5:c.534G>T | ENSP00000440846.1:p.Lys178Asn | |
| NM_000240.3:c.933G>T | NP_000231.1:p.Lys311Asn | |
| NM_001270458.1:c.534G>T | NP_001257387.1:p.Lys178Asn | |
| NM_000240.4:c.933G>T MANE Select | NP_000231.1:p.Lys311Asn | |
| NM_001270458.2:c.534G>T | NP_001257387.1:p.Lys178Asn |