Linked Data
dbSNP Id:
rs1296729886
gnomAD v3:
X-154028127-T-C
gnomAD v4:
X-154028127-T-C
MyVariant Identifiers:
chrX:g.154028127T>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154028127T>C , CM000685.2:g.154028127T>C | GRCh38 |
| NC_000023.10:g.153293578T>C , CM000685.1:g.153293578T>C | GRCh37 |
| NC_000023.9:g.152946772T>C | NCBI36 |
| NG_007107.2:g.114001A>G | |
| NG_007107.3:g.113977A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303391.11:c.*2240A>G MANE Plus Clinical | ENSP00000301948.6:n.*2240A>G | |
| ENST00000453960.7:c.*2240A>G MANE Select | ENSP00000395535.2:n.*2240A>G | |
| ENST00000303391.10:c.*2240A>G | ENSP00000301948.6:n.*2240A>G | |
| ENST00000619732.4:c.*2167A>G | ENSP00000480973.1:n.*2167A>G | |
| NM_004992.3:c.*2240A>G | NP_004983.1:n.*2240A>G | |
| XM_006724819.3:c.*2240A>G | XP_006724882.1:n.*2240A>G | |
| XM_011531166.2:c.*2240A>G | XP_011529468.1:n.*2240A>G | |
| XM_024452383.1:c.*2240A>G | XP_024308151.1:n.*2240A>G | |
| XM_024452384.1:c.*2240A>G | XP_024308152.1:n.*2240A>G | |
| NM_001110792.2:c.*2240A>G MANE Select | NP_001104262.1:n.*2240A>G | |
| NM_001316337.2:c.*2240A>G | NP_001303266.1:n.*2240A>G | |
| NM_001369391.2:c.*2240A>G | NP_001356320.1:n.*2240A>G | |
| NM_001369392.2:c.*2240A>G | NP_001356321.1:n.*2240A>G | |
| NM_001369393.2:c.*2240A>G | NP_001356322.1:n.*2240A>G | |
| NM_001369394.2:c.*2240A>G | NP_001356323.1:n.*2240A>G | |
| NM_001386137.1:c.*2240A>G | NP_001373066.1:n.*2240A>G | |
| NM_001386138.1:c.*2240A>G | NP_001373067.1:n.*2240A>G | |
| NM_001386139.1:c.*2240A>G | NP_001373068.1:n.*2240A>G | |
| NM_004992.4:c.*2240A>G MANE Plus Clinical | NP_004983.1:n.*2240A>G |