Linked Data
dbSNP Id:
rs1409326424
gnomAD v3:
X-37783714-T-C
gnomAD v4:
X-37783714-T-C
MyVariant Identifiers:
chrX:g.37783714T>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.37783714T>C , CM000685.2:g.37783714T>C | GRCh38 |
| NC_000023.10:g.37642967T>C , CM000685.1:g.37642967T>C | GRCh37 |
| NC_000023.9:g.37527911T>C | NCBI36 |
| NG_009065.1:g.8698T>C , LRG_53:g.8698T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696170.1:c.252+114T>C | ENSP00000512461.1:n.252+114T>C | |
| ENST00000696171.1:c.156+114T>C | ENSP00000512462.1:n.156+114T>C | |
| ENST00000696172.1:c.252+114T>C | ENSP00000512463.1:n.252+114T>C | |
| ENST00000696173.1:n.260+114T>C | ||
| ENST00000378588.5:c.252+114T>C MANE Select | ENSP00000367851.4:n.252+114T>C | |
| ENST00000378588.4:c.252+114T>C | ENSP00000367851.4:n.252+114T>C | |
| ENST00000465127.1:c.171+357714T>C | ENSP00000417050.1:n.171+357714T>C | |
| NM_000397.3:c.252+114T>C , LRG_53t1:c.252+114T>C | NP_000388.2:n.252+114T>C | |
| XM_011543890.1:c.-179+114T>C | XP_011542192.1:n.-179+114T>C | |
| NM_000397.4:c.252+114T>C MANE Select | NP_000388.2:n.252+114T>C |