Linked Data
ClinVar Variation Id:
225353
ClinVar RCV Id:
RCV000490278
dbSNP Id:
rs782654096
ExAC:
X:154088883 C / T
gnomAD v2:
X-154088883-C-T
gnomAD v3:
X-154860608-C-T
gnomAD v4:
X-154860608-C-T
ERepo:
CA10567761/MONDO:0010602/071
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154860608C>T , CM000685.2:g.154860608C>T | GRCh38 |
| NC_000023.10:g.154088883C>T , CM000685.1:g.154088883C>T | GRCh37 |
| NC_000023.9:g.153742077C>T | NCBI36 |
| NG_011403.1:g.167116G>A | |
| NG_011403.2:g.167116G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.6724G>A MANE Select | ENSP00000353393.4:p.Val2242Met | |
| ENST00000644698.1:c.457G>A | ENSP00000495706.1:p.Val153Met | |
| ENST00000330287.10:c.319G>A | ENSP00000327895.6:p.Val107Met | |
| ENST00000360256.8:c.6724G>A | ENSP00000353393.4:p.Val2242Met | |
| NM_000132.3:c.6724G>A | NP_000123.1:p.Val2242Met | |
| NM_019863.2:c.319G>A | NP_063916.1:p.Val107Met | |
| XM_011531126.1:c.6619G>A | XP_011529428.1:p.Val2207Met | |
| NM_000132.4:c.6724G>A MANE Select | NP_000123.1:p.Val2242Met | |
| NM_019863.3:c.319G>A | NP_063916.1:p.Val107Met |