Linked Data
ClinVar Variation Id:
1129030
ClinVar RCV Id:
RCV001461992
dbSNP Id:
rs771474981
ExAC:
X:38229115 T / C
gnomAD v2:
X-38229115-T-C
gnomAD v4:
X-38369862-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38369862T>C , CM000685.2:g.38369862T>C | GRCh38 |
| NC_000023.10:g.38229115T>C , CM000685.1:g.38229115T>C | GRCh37 |
| NC_000023.9:g.38114059T>C | NCBI36 |
| NG_008471.1:g.22380T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000039007.5:c.283T>C MANE Select | ENSP00000039007.4:p.Leu95= | |
| ENST00000643344.1:c.283T>C | ENSP00000496606.1:p.Leu95= | |
| ENST00000039007.4:c.283T>C | ENSP00000039007.4:p.Leu95= | |
| ENST00000465127.1:c.172-296259T>C | ENSP00000417050.1:n.172-296259T>C | |
| ENST00000488812.1:n.353+22T>C | ||
| NM_000531.5:c.283T>C | NP_000522.3:p.Leu95= | |
| XM_017029556.1:c.283T>C | XP_016885045.1:p.Leu95= | |
| NM_000531.6:c.283T>C MANE Select | NP_000522.3:p.Leu95= |