Linked Data
ClinVar Variation Id:
211893
dbSNP Id:
rs767503319
ExAC:
X:19377118 T / C
gnomAD v2:
X-19377118-T-C
gnomAD v3:
X-19359000-T-C
gnomAD v4:
X-19359000-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.19359000T>C , CM000685.2:g.19359000T>C | GRCh38 |
| NC_000023.10:g.19377118T>C , CM000685.1:g.19377118T>C | GRCh37 |
| NC_000023.9:g.19287039T>C | NCBI36 |
| NG_016781.1:g.20108T>C | |
| NG_021184.1:g.161262A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355808.10:c.1005T>C | ENSP00000348062.6:p.Asn335= | |
| ENST00000379805.4:c.*676T>C | ENSP00000369133.3:n.*676T>C | |
| ENST00000417819.6:c.1068T>C | ENSP00000404616.2:p.Asn356= | |
| ENST00000423505.6:c.1098T>C | ENSP00000406473.2:p.Asn366= | |
| ENST00000481733.2:n.779T>C | ||
| ENST00000696704.1:c.*316T>C | ENSP00000512823.1:n.*316T>C | |
| ENST00000696705.1:c.*439T>C | ENSP00000512824.1:n.*439T>C | |
| ENST00000422285.7:c.984T>C MANE Select | ENSP00000394382.2:p.Asn328= | |
| ENST00000379804.1:c.141T>C | ENSP00000369132.1:p.Asn47= | |
| ENST00000379806.9:c.1098T>C | ENSP00000369134.5:p.Asn366= | |
| ENST00000422285.6:c.984T>C | ENSP00000394382.2:p.Asn328= | |
| ENST00000478795.1:n.423T>C | ||
| ENST00000481733.1:n.412T>C | ||
| ENST00000540249.5:c.891T>C | ENSP00000440761.1:p.Asn297= | |
| ENST00000545074.5:c.1005T>C | ENSP00000438550.1:p.Asn335= | |
| NM_000284.3:c.984T>C | NP_000275.1:p.Asn328= | |
| NM_001173454.1:c.1098T>C | NP_001166925.1:p.Asn366= | |
| NM_001173455.1:c.1005T>C | NP_001166926.1:p.Asn335= | |
| NM_001173456.1:c.891T>C | NP_001166927.1:p.Asn297= | |
| XM_011545531.1:c.1119T>C | XP_011543833.1:p.Asn373= | |
| XM_011545532.1:c.1026T>C | XP_011543834.1:p.Asn342= | |
| XM_017029574.2:c.1005T>C | XP_016885063.1:p.Asn335= | |
| NM_000284.4:c.984T>C MANE Select | NP_000275.1:p.Asn328= | |
| NM_001173454.2:c.1098T>C | NP_001166925.1:p.Asn366= | |
| NM_001173455.2:c.1005T>C | NP_001166926.1:p.Asn335= | |
| NM_001173456.2:c.891T>C | NP_001166927.1:p.Asn297= |