Linked Data
dbSNP Id:
rs1556468284
gnomAD v2:
X-37655175-G-C
gnomAD v4:
X-37795922-G-C
MyVariant Identifiers:
chrX:g.37655175G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.37795922G>C , CM000685.2:g.37795922G>C | GRCh38 |
| NC_000023.10:g.37655175G>C , CM000685.1:g.37655175G>C | GRCh37 |
| NC_000023.9:g.37540115G>C | NCBI36 |
| NG_009065.1:g.20902G>C , LRG_53:g.20902G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696170.1:c.338-29G>C | ENSP00000512461.1:n.338-29G>C | |
| ENST00000696171.1:c.388-29G>C | ENSP00000512462.1:n.388-29G>C | |
| ENST00000696172.1:c.338-3033G>C | ENSP00000512463.1:n.338-3033G>C | |
| ENST00000378588.5:c.484-29G>C MANE Select | ENSP00000367851.4:n.484-29G>C | |
| ENST00000378588.4:c.484-29G>C | ENSP00000367851.4:n.484-29G>C | |
| ENST00000465127.1:c.171+369922G>C | ENSP00000417050.1:n.171+369922G>C | |
| NM_000397.3:c.484-29G>C , LRG_53t1:c.484-29G>C | NP_000388.2:n.484-29G>C | |
| XM_011543890.1:c.178-29G>C | XP_011542192.1:n.178-29G>C | |
| NM_000397.4:c.484-29G>C MANE Select | NP_000388.2:n.484-29G>C |