Linked Data
ClinVar Variation Id:
870146
ClinVar RCV Id:
RCV001089666
dbSNP Id:
rs781916566
ExAC:
X:148564645 C / T
gnomAD v2:
X-148564645-C-T
gnomAD v3:
X-149483114-C-T
gnomAD v4:
X-149483114-C-T
COSMIC:
COSM1466255
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.149483114C>T , CM000685.2:g.149483114C>T | GRCh38 |
| NC_000023.10:g.148564645C>T , CM000685.1:g.148564645C>T | GRCh37 |
| NC_000023.9:g.148372550C>T | NCBI36 |
| NG_011900.3:g.27221G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340855.11:c.1285G>A MANE Select | ENSP00000339801.6:p.Val429Ile | |
| ENST00000651111.1:c.652G>A | ENSP00000498395.1:p.Val218Ile | |
| ENST00000340855.10:c.1285G>A | ENSP00000339801.6:p.Val429Ile | |
| ENST00000422081.6:c.652G>A | ENSP00000477056.1:p.Val218Ile | |
| ENST00000441880.1:n.392G>A | ||
| NM_000202.6:c.1285G>A | NP_000193.1:p.Val429Ile | |
| NM_001166550.2:c.1015G>A | NP_001160022.1:p.Val339Ile | |
| NM_000202.7:c.1285G>A | NP_000193.1:p.Val429Ile | |
| NM_001166550.3:c.1015G>A | NP_001160022.1:p.Val339Ile | |
| NM_000202.8:c.1285G>A MANE Select | NP_000193.1:p.Val429Ile | |
| NM_001166550.4:c.1015G>A | NP_001160022.1:p.Val339Ile |