Linked Data
ClinVar Variation Id:
2698128
ClinVar RCV Id:
RCV003510457
MyVariant Identifiers:
chrX:g.37642805C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.37783552C>A , CM000685.2:g.37783552C>A | GRCh38 |
| NC_000023.10:g.37642805C>A , CM000685.1:g.37642805C>A | GRCh37 |
| NC_000023.9:g.37527749C>A | NCBI36 |
| NG_009065.1:g.8536C>A , LRG_53:g.8536C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696170.1:c.204C>A | ENSP00000512461.1:p.Leu68= | |
| ENST00000696171.1:c.108C>A | ENSP00000512462.1:p.Leu36= | |
| ENST00000696172.1:c.204C>A | ENSP00000512463.1:p.Leu68= | |
| ENST00000696173.1:n.212C>A | ||
| ENST00000378588.5:c.204C>A MANE Select | ENSP00000367851.4:p.Leu68= | |
| ENST00000378588.4:c.204C>A | ENSP00000367851.4:p.Leu68= | |
| ENST00000465127.1:c.171+357552C>A | ENSP00000417050.1:n.171+357552C>A | |
| NM_000397.3:c.204C>A , LRG_53t1:c.204C>A | NP_000388.2:p.Leu68= | |
| XM_011543890.1:c.-227C>A | XP_011542192.1:n.-227C>A | |
| NM_000397.4:c.204C>A MANE Select | NP_000388.2:p.Leu68= |