Linked Data
ClinVar Variation Id:
94027
dbSNP Id:
rs149653283
ExAC:
X:148048494 A / C
gnomAD v2:
X-148048494-A-C
gnomAD v3:
X-148966964-A-C
gnomAD v4:
X-148966964-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.148966964A>C , CM000685.2:g.148966964A>C | GRCh38 |
| NC_000023.10:g.148048494A>C , CM000685.1:g.148048494A>C | GRCh37 |
| NC_000023.9:g.147856188A>C | NCBI36 |
| NG_016313.1:g.471356A>C | |
| NG_016313.2:g.471346A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370460.7:c.3088A>C MANE Select | ENSP00000359489.2:p.Ile1030Leu | |
| ENST00000671877.1:n.2101A>C | ||
| ENST00000286437.7:c.2011A>C | ENSP00000286437.5:p.Ile671Leu | |
| ENST00000342251.7:c.2983A>C | ENSP00000345459.4:p.Ile995Leu | |
| ENST00000370457.9:c.2983A>C | ENSP00000359486.6:p.Ile995Leu | |
| ENST00000370460.6:c.3088A>C | ENSP00000359489.2:p.Ile1030Leu | |
| NM_001169122.1:c.2983A>C | NP_001162593.1:p.Ile995Leu | |
| NM_001169123.1:c.3058A>C | NP_001162594.1:p.Ile1020Leu | |
| NM_001169124.1:c.2983A>C | NP_001162595.1:p.Ile995Leu | |
| NM_001169125.1:c.2971A>C | NP_001162596.1:p.Ile991Leu | |
| NM_001170628.1:c.2011A>C | NP_001164099.1:p.Ile671Leu | |
| NM_002025.3:c.3088A>C | NP_002016.2:p.Ile1030Leu | |
| NM_001169122.2:c.2983A>C | NP_001162593.1:p.Ile995Leu | |
| NM_001169123.2:c.3058A>C | NP_001162594.1:p.Ile1020Leu | |
| NM_001169124.2:c.2983A>C | NP_001162595.1:p.Ile995Leu | |
| NM_001169125.2:c.2971A>C | NP_001162596.1:p.Ile991Leu | |
| NM_002025.4:c.3088A>C MANE Select | NP_002016.2:p.Ile1030Leu |