Linked Data
ClinVar Variation Id:
2107557
ClinVar RCV Id:
RCV003029263
MyVariant Identifiers:
chrX:g.37642829G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.37783576G>C , CM000685.2:g.37783576G>C | GRCh38 |
| NC_000023.10:g.37642829G>C , CM000685.1:g.37642829G>C | GRCh37 |
| NC_000023.9:g.37527773G>C | NCBI36 |
| NG_009065.1:g.8560G>C , LRG_53:g.8560G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696170.1:c.228G>C | ENSP00000512461.1:p.Leu76= | |
| ENST00000696171.1:c.132G>C | ENSP00000512462.1:p.Leu44= | |
| ENST00000696172.1:c.228G>C | ENSP00000512463.1:p.Leu76= | |
| ENST00000696173.1:n.236G>C | ||
| ENST00000378588.5:c.228G>C MANE Select | ENSP00000367851.4:p.Leu76= | |
| ENST00000378588.4:c.228G>C | ENSP00000367851.4:p.Leu76= | |
| ENST00000465127.1:c.171+357576G>C | ENSP00000417050.1:n.171+357576G>C | |
| NM_000397.3:c.228G>C , LRG_53t1:c.228G>C | NP_000388.2:p.Leu76= | |
| XM_011543890.1:c.-203G>C | XP_011542192.1:n.-203G>C | |
| NM_000397.4:c.228G>C MANE Select | NP_000388.2:p.Leu76= |