Linked Data
ClinVar Variation Id:
2935979
ClinVar RCV Id:
RCV003796265
dbSNP Id:
rs782301435
ExAC:
X:48545216 C / A
gnomAD v2:
X-48545216-C-A
gnomAD v4:
X-48686827-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48686827C>A , CM000685.2:g.48686827C>A | GRCh38 |
| NC_000023.10:g.48545216C>A , CM000685.1:g.48545216C>A | GRCh37 |
| NC_000023.9:g.48430160C>A | NCBI36 |
| NG_007877.1:g.8031C>A , LRG_125:g.8031C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000483750.6:n.639C>A | ||
| ENST00000490627.2:n.171+693C>A | ||
| ENST00000698625.1:c.606C>A | ENSP00000513844.1:p.Ile202= | |
| ENST00000698626.1:c.606C>A | ENSP00000513845.1:p.Ile202= | |
| ENST00000698635.1:c.606C>A | ENSP00000513850.1:p.Ile202= | |
| ENST00000376701.5:c.606C>A MANE Select | ENSP00000365891.4:p.Ile202= | |
| ENST00000376701.4:c.606C>A | ENSP00000365891.4:p.Ile202= | |
| ENST00000450772.5:c.606C>A | ENSP00000410537.1:p.Ile202= | |
| ENST00000465982.5:n.506C>A | ||
| ENST00000483750.5:n.632C>A | ||
| ENST00000490627.1:n.154+693C>A | ||
| NM_000377.2:c.606C>A , LRG_125t1:c.606C>A | NP_000368.1:p.Ile202= | |
| XM_011543977.1:c.606C>A | XP_011542279.1:p.Ile202= | |
| XM_011543977.2:c.606C>A | XP_011542279.1:p.Ile202= | |
| XM_017029786.1:c.606C>A | XP_016885275.1:p.Ile202= | |
| NM_000377.3:c.606C>A MANE Select | NP_000368.1:p.Ile202= |