Linked Data
ClinVar Variation Id:
1638427
ClinVar RCV Id:
RCV002134093
dbSNP Id:
rs782088470
ExAC:
X:49074426 G / A
gnomAD v2:
X-49074426-G-A
gnomAD v3:
X-49217967-G-A
gnomAD v4:
X-49217967-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.49217967G>A , CM000685.2:g.49217967G>A | GRCh38 |
| NC_000023.10:g.49074426G>A , CM000685.1:g.49074426G>A | GRCh37 |
| NC_000023.9:g.48961370G>A | NCBI36 |
| NG_009095.2:g.20400C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323022.10:c.2967C>T MANE Select | ENSP00000321618.6:p.Ile989= | |
| ENST00000323022.9:c.2967C>T | ENSP00000321618.5:p.Ile989= | |
| ENST00000376251.5:c.2805C>T | ENSP00000365427.1:p.Ile935= | |
| ENST00000376265.2:c.3000C>T | ENSP00000365441.2:p.Ile1000= | |
| NM_001256789.2:c.2967C>T | NP_001243718.1:p.Ile989= | |
| NM_001256790.2:c.2805C>T | NP_001243719.1:p.Ile935= | |
| NM_005183.3:c.3000C>T | NP_005174.2:p.Ile1000= | |
| XM_011543983.1:c.2805C>T | XP_011542285.1:p.Ile935= | |
| XM_011543983.2:c.2805C>T | XP_011542285.1:p.Ile935= | |
| XM_017029836.1:c.234C>T | XP_016885325.1:p.Ile78= | |
| NM_001256789.3:c.2967C>T MANE Select | NP_001243718.1:p.Ile989= | |
| NM_001256790.3:c.2805C>T | NP_001243719.1:p.Ile935= | |
| NM_005183.4:c.3000C>T | NP_005174.2:p.Ile1000= |