Linked Data
ClinVar Variation Id:
811103
ClinVar RCV Id:
RCV001000745
dbSNP Id:
rs372867215
ExAC:
X:154185318 C / T
gnomAD v2:
X-154185318-C-T
gnomAD v3:
X-154957043-C-T
gnomAD v4:
X-154957043-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154957043C>T , CM000685.2:g.154957043C>T | GRCh38 |
| NC_000023.10:g.154185318C>T , CM000685.1:g.154185318C>T | GRCh37 |
| NC_000023.9:g.153838512C>T | NCBI36 |
| NG_011403.1:g.70681G>A | |
| NG_011403.2:g.70681G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.1666G>A MANE Select | ENSP00000353393.4:p.Val556Ile | |
| ENST00000647125.1:c.*1542G>A | ENSP00000496062.1:n.*1542G>A | |
| ENST00000360256.8:c.1666G>A | ENSP00000353393.4:p.Val556Ile | |
| NM_000132.3:c.1666G>A | NP_000123.1:p.Val556Ile | |
| XM_011531126.1:c.1561G>A | XP_011529428.1:p.Val521Ile | |
| NM_000132.4:c.1666G>A MANE Select | NP_000123.1:p.Val556Ile |