Linked Data
ClinVar Variation Id:
2578164
ClinVar RCV Id:
RCV003325763
dbSNP Id:
rs1045890560
gnomAD v4:
X-149487035-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.149487035A>G , CM000685.2:g.149487035A>G | GRCh38 |
| NC_000023.10:g.148568566A>G , CM000685.1:g.148568566A>G | GRCh37 |
| NC_000023.9:g.148376471A>G | NCBI36 |
| NG_011900.3:g.23300T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340855.11:c.1070T>C MANE Select | ENSP00000339801.6:p.Val357Ala | |
| ENST00000651111.1:c.437T>C | ENSP00000498395.1:p.Val146Ala | |
| ENST00000340855.10:c.1070T>C | ENSP00000339801.6:p.Val357Ala | |
| ENST00000422081.6:c.437T>C | ENSP00000477056.1:p.Val146Ala | |
| ENST00000441880.1:n.177T>C | ||
| NM_000202.6:c.1070T>C | NP_000193.1:p.Val357Ala | |
| NM_001166550.2:c.800T>C | NP_001160022.1:p.Val267Ala | |
| NM_000202.7:c.1070T>C | NP_000193.1:p.Val357Ala | |
| NM_001166550.3:c.800T>C | NP_001160022.1:p.Val267Ala | |
| NM_000202.8:c.1070T>C MANE Select | NP_000193.1:p.Val357Ala | |
| NM_001166550.4:c.800T>C | NP_001160022.1:p.Val267Ala |