Linked Data
ClinVar Variation Id:
213987
dbSNP Id:
rs143380072
ExAC:
X:74375987 A / G
gnomAD v2:
X-74375987-A-G
gnomAD v3:
X-75156152-A-G
gnomAD v4:
X-75156152-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.75156152A>G , CM000685.2:g.75156152A>G | GRCh38 |
| NC_000023.10:g.74375987A>G , CM000685.1:g.74375987A>G | GRCh37 |
| NC_000023.9:g.74292712A>G | NCBI36 |
| NG_007980.1:g.5146T>C | |
| NG_007980.3:g.5132T>C | |
| NG_015972.2:g.4774A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253577.9:c.121T>C | ENSP00000253577.3:p.Trp41Arg | |
| ENST00000373394.8:c.121T>C MANE Select | ENSP00000362492.3:p.Trp41Arg | |
| ENST00000526404.2:c.121T>C | ENSP00000432813.2:p.Trp41Arg | |
| ENST00000620875.5:c.121T>C | ENSP00000479985.1:p.Trp41Arg | |
| ENST00000643632.1:c.131T>C | ||
| ENST00000644766.1:c.121T>C | ENSP00000493713.1:p.Trp41Arg | |
| ENST00000645829.3:c.121T>C | ENSP00000496526.2:p.Trp41Arg | |
| ENST00000669573.1:c.121T>C | ENSP00000499543.1:p.Trp41Arg | |
| ENST00000253577.7:c.121T>C | ENSP00000253577.3:p.Trp41Arg | |
| ENST00000339447.8:c.121T>C | ENSP00000343849.4:p.Trp41Arg | |
| ENST00000373394.7:c.121T>C | ENSP00000362492.3:p.Trp41Arg | |
| ENST00000526404.1:c.157T>C | ENSP00000432813.1:p.Trp53Arg | |
| ENST00000529949.5:c.121T>C | ENSP00000436586.1:p.Trp41Arg | |
| ENST00000534524.5:c.121T>C | ENSP00000435521.1:p.Trp41Arg | |
| ENST00000620875.4:c.121T>C | ENSP00000479985.1:p.Trp41Arg | |
| NM_001271696.1:c.121T>C | NP_001258625.1:p.Trp41Arg | |
| NM_001271697.1:c.121T>C | NP_001258626.1:p.Trp41Arg | |
| NM_001271698.1:c.121T>C | NP_001258627.1:p.Trp41Arg | |
| NM_001271699.1:c.121T>C | NP_001258628.1:p.Trp41Arg | |
| NM_004299.4:c.121T>C | NP_004290.2:p.Trp41Arg | |
| NM_001271696.2:c.121T>C | NP_001258625.1:p.Trp41Arg | |
| NM_001271697.2:c.121T>C | NP_001258626.1:p.Trp41Arg | |
| NM_001271698.2:c.121T>C | NP_001258627.1:p.Trp41Arg | |
| NM_001271699.2:c.121T>C | NP_001258628.1:p.Trp41Arg | |
| NM_004299.6:c.121T>C | NP_004290.2:p.Trp41Arg | |
| NM_001271696.3:c.121T>C MANE Select | NP_001258625.1:p.Trp41Arg | |
| NM_001271697.3:c.121T>C | NP_001258626.1:p.Trp41Arg | |
| NM_001271698.3:c.121T>C | NP_001258627.1:p.Trp41Arg | |
| NM_001271699.3:c.121T>C | NP_001258628.1:p.Trp41Arg |