Linked Data
dbSNP Id:
rs1430041434
gnomAD v3:
X-154997127-T-C
gnomAD v4:
X-154997127-T-C
MyVariant Identifiers:
chrX:g.154997127T>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154997127T>C , CM000685.2:g.154997127T>C | GRCh38 |
| NC_000023.10:g.154225402T>C , CM000685.1:g.154225402T>C | GRCh37 |
| NC_000023.9:g.153878596T>C | NCBI36 |
| NG_011403.1:g.30597A>G | |
| NG_011403.2:g.30597A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360256.9:c.266-32A>G MANE Select | ENSP00000353393.4:n.266-32A>G | |
| ENST00000647125.1:c.*52-32A>G | ENSP00000496062.1:n.*52-32A>G | |
| ENST00000360256.8:c.266-32A>G | ENSP00000353393.4:n.266-32A>G | |
| ENST00000423959.5:c.161-32A>G | ENSP00000409446.1:n.161-32A>G | |
| ENST00000453950.1:c.248-32A>G | ENSP00000389153.1:n.248-32A>G | |
| NM_000132.3:c.266-32A>G | NP_000123.1:n.266-32A>G | |
| XM_011531126.1:c.161-32A>G | XP_011529428.1:n.161-32A>G | |
| NM_000132.4:c.266-32A>G MANE Select | NP_000123.1:n.266-32A>G |