Linked Data
dbSNP Id:
rs1258176270
gnomAD v3:
X-154371363-T-G
gnomAD v4:
X-154371363-T-G
MyVariant Identifiers:
chrX:g.154371363T>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154371363T>G , CM000685.2:g.154371363T>G | GRCh38 |
| NC_000023.10:g.153599731T>G , CM000685.1:g.153599731T>G | GRCh37 |
| NC_000023.9:g.153252925T>G | NCBI36 |
| NG_008677.1:g.1936T>G , LRG_745:g.1936T>G | |
| NG_011506.1:g.8276A>C | |
| NG_011506.2:g.8276A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369850.10:c.-116-2A>C MANE Select | ENSP00000358866.3:n.-116-2A>C | |
| ENST00000369850.7:c.-116-2A>C | ENSP00000358866.3:n.-116-2A>C | |
| ENST00000422373.5:c.-116-2A>C | ENSP00000416926.1:n.-116-2A>C | |
| ENST00000610817.4:c.-197-2A>C | ENSP00000480593.1:n.-197-2A>C | |
| NM_001110556.1:c.-116-2A>C | NP_001104026.1:n.-116-2A>C | |
| NM_001456.3:c.-116-2A>C | NP_001447.2:n.-116-2A>C | |
| XM_011531127.1:c.-116-2A>C | XP_011529429.1:n.-116-2A>C | |
| XM_011531128.1:c.-116-2A>C | XP_011529430.1:n.-116-2A>C | |
| XM_011531129.1:c.-116-2A>C | XP_011529431.1:n.-116-2A>C | |
| XM_011531130.1:c.-116-2A>C | XP_011529432.1:n.-116-2A>C | |
| XM_011531131.1:c.-116-2A>C | XP_011529433.1:n.-116-2A>C | |
| NM_001110556.2:c.-116-2A>C MANE Select | NP_001104026.1:n.-116-2A>C | |
| NM_001456.4:c.-116-2A>C | NP_001447.2:n.-116-2A>C |