Linked Data
dbSNP Id:
rs1237360362
gnomAD v3:
X-37783758-G-A
gnomAD v4:
X-37783758-G-A
MyVariant Identifiers:
chrX:g.37783758G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.37783758G>A , CM000685.2:g.37783758G>A | GRCh38 |
| NC_000023.10:g.37643011G>A , CM000685.1:g.37643011G>A | GRCh37 |
| NC_000023.9:g.37527955G>A | NCBI36 |
| NG_009065.1:g.8742G>A , LRG_53:g.8742G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696170.1:c.252+158G>A | ENSP00000512461.1:n.252+158G>A | |
| ENST00000696171.1:c.156+158G>A | ENSP00000512462.1:n.156+158G>A | |
| ENST00000696172.1:c.252+158G>A | ENSP00000512463.1:n.252+158G>A | |
| ENST00000696173.1:n.260+158G>A | ||
| ENST00000378588.5:c.252+158G>A MANE Select | ENSP00000367851.4:n.252+158G>A | |
| ENST00000378588.4:c.252+158G>A | ENSP00000367851.4:n.252+158G>A | |
| ENST00000465127.1:c.171+357758G>A | ENSP00000417050.1:n.171+357758G>A | |
| NM_000397.3:c.252+158G>A , LRG_53t1:c.252+158G>A | NP_000388.2:n.252+158G>A | |
| XM_011543890.1:c.-179+158G>A | XP_011542192.1:n.-179+158G>A | |
| NM_000397.4:c.252+158G>A MANE Select | NP_000388.2:n.252+158G>A |