Linked Data
dbSNP Id:
rs1232742294
gnomAD v3:
X-149483355-C-T
gnomAD v4:
X-149483355-C-T
MyVariant Identifiers:
chrX:g.149483355C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.149483355C>T , CM000685.2:g.149483355C>T | GRCh38 |
| NC_000023.10:g.148564886C>T , CM000685.1:g.148564886C>T | GRCh37 |
| NC_000023.9:g.148372791C>T | NCBI36 |
| NG_011900.3:g.26980G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340855.11:c.1181-137G>A MANE Select | ENSP00000339801.6:n.1181-137G>A | |
| ENST00000651111.1:c.548-137G>A | ENSP00000498395.1:n.548-137G>A | |
| ENST00000340855.10:c.1181-137G>A | ENSP00000339801.6:n.1181-137G>A | |
| ENST00000422081.6:c.548-137G>A | ENSP00000477056.1:n.548-137G>A | |
| ENST00000441880.1:n.288-137G>A | ||
| NM_000202.6:c.1181-137G>A | NP_000193.1:n.1181-137G>A | |
| NM_001166550.2:c.911-137G>A | NP_001160022.1:n.911-137G>A | |
| NM_000202.7:c.1181-137G>A | NP_000193.1:n.1181-137G>A | |
| NM_001166550.3:c.911-137G>A | NP_001160022.1:n.911-137G>A | |
| NM_000202.8:c.1181-137G>A MANE Select | NP_000193.1:n.1181-137G>A | |
| NM_001166550.4:c.911-137G>A | NP_001160022.1:n.911-137G>A |