Linked Data
ClinVar Variation Id:
3053145
ClinVar RCV Id:
RCV003971811
dbSNP Id:
rs752354882
ExAC:
X:136649919 A / G
gnomAD v2:
X-136649919-A-G
gnomAD v3:
X-137567760-A-G
gnomAD v4:
X-137567760-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.137567760A>G , CM000685.2:g.137567760A>G | GRCh38 |
| NC_000023.10:g.136649919A>G , CM000685.1:g.136649919A>G | GRCh37 |
| NC_000023.9:g.136477585A>G | NCBI36 |
| NG_008115.1:g.6574A>G | |
| NG_008115.2:g.6634A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287538.10:c.1060+9A>G MANE Select | ENSP00000287538.5:n.1060+9A>G | |
| ENST00000287538.9:c.1060+9A>G | ENSP00000287538.5:n.1060+9A>G | |
| ENST00000370606.3:c.1060+9A>G | ENSP00000359638.3:n.1060+9A>G | |
| NM_003413.3:c.1060+9A>G | NP_003404.1:n.1060+9A>G | |
| NM_001330661.1:c.1060+9A>G | NP_001317590.1:n.1060+9A>G | |
| NM_003413.4:c.1060+9A>G MANE Select | NP_003404.1:n.1060+9A>G |