Linked Data
ClinVar Variation Id:
1277542
ClinVar RCV Id:
RCV001692699
dbSNP Id:
rs3747460
ExAC:
X:135056133 C / T
gnomAD v2:
X-135056133-C-T
gnomAD v3:
X-135973974-C-T
gnomAD v4:
X-135973974-C-T
MyVariant Identifiers:
chrX:g.135056133C>T (hg19)
chrX:g.135056133_135056134delinsTG (hg19)
chrX:g.135973974C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.135973974C>T , CM000685.2:g.135973974C>T | GRCh38 |
| NC_000023.10:g.135056133C>T , CM000685.1:g.135056133C>T | GRCh37 |
| NC_000023.9:g.134883799C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000680510.2:c.-299G>A (MMGT1) | ENSP00000505521.1:n.-299G>A | |
| ENST00000305963.3:c.-299G>A (MMGT1) MANE Select | ENSP00000306220.2:n.-299G>A | |
| ENST00000636347.1:c.-241C>T (SLC9A6) | ENSP00000490648.1:n.-241C>T | |
| ENST00000679621.1:c.-222G>A (MMGT1) | ENSP00000505226.1:n.-222G>A | |
| ENST00000680510.1:c.-299G>A (MMGT1) | ENSP00000505521.1:n.-299G>A | |
| ENST00000305963.2:c.-299G>A (MMGT1) | ENSP00000306220.2:n.-299G>A | |
| NM_173470.1:c.-299G>A (MMGT1) | NP_775741.1:n.-299G>A | |
| NM_001330000.1:c.-222G>A (MMGT1) | NP_001316929.1:n.-222G>A | |
| NM_173470.2:c.-299G>A (MMGT1) | NP_775741.1:n.-299G>A | |
| NM_001330000.2:c.-222G>A (MMGT1) | NP_001316929.1:n.-222G>A | |
| NM_173470.3:c.-299G>A (MMGT1) MANE Select | NP_775741.1:n.-299G>A | |
| NM_001400909.1:c.-241C>T (SLC9A6) | NP_001387838.1:n.-241C>T |