Linked Data
dbSNP Id:
rs1159211965
gnomAD v3:
X-154860362-G-A
gnomAD v4:
X-154860362-G-A
MyVariant Identifiers:
chrX:g.154860362G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154860362G>A , CM000685.2:g.154860362G>A | GRCh38 |
| NC_000023.10:g.154088637G>A , CM000685.1:g.154088637G>A | GRCh37 |
| NC_000023.9:g.153741831G>A | NCBI36 |
| NG_011403.1:g.167362C>T | |
| NG_011403.2:g.167362C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.6900+70C>T MANE Select | ENSP00000353393.4:n.6900+70C>T | |
| ENST00000644698.1:c.633+70C>T | ENSP00000495706.1:n.633+70C>T | |
| ENST00000330287.10:c.495+70C>T | ENSP00000327895.6:n.495+70C>T | |
| ENST00000360256.8:c.6900+70C>T | ENSP00000353393.4:n.6900+70C>T | |
| NM_000132.3:c.6900+70C>T | NP_000123.1:n.6900+70C>T | |
| NM_019863.2:c.495+70C>T | NP_063916.1:n.495+70C>T | |
| XM_011531126.1:c.6795+70C>T | XP_011529428.1:n.6795+70C>T | |
| NM_000132.4:c.6900+70C>T MANE Select | NP_000123.1:n.6900+70C>T | |
| NM_019863.3:c.495+70C>T | NP_063916.1:n.495+70C>T |