Linked Data
ClinVar Variation Id:
449370
dbSNP Id:
rs782158761
ExAC:
X:154221213 T / C
gnomAD v2:
X-154221213-T-C
gnomAD v4:
X-154992938-T-C
ERepo:
CA10568575/MONDO:0010602/071
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154992938T>C , CM000685.2:g.154992938T>C | GRCh38 |
| NC_000023.10:g.154221213T>C , CM000685.1:g.154221213T>C | GRCh37 |
| NC_000023.9:g.153874407T>C | NCBI36 |
| NG_011403.1:g.34786A>G | |
| NG_011403.2:g.34786A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.599A>G MANE Select | ENSP00000353393.4:p.Glu200Gly | |
| ENST00000647125.1:c.*385A>G | ENSP00000496062.1:n.*385A>G | |
| ENST00000360256.8:c.599A>G | ENSP00000353393.4:p.Glu200Gly | |
| ENST00000423959.5:c.494A>G | ENSP00000409446.1:p.Glu165Gly | |
| NM_000132.3:c.599A>G | NP_000123.1:p.Glu200Gly | |
| XM_011531126.1:c.494A>G | XP_011529428.1:p.Glu165Gly | |
| NM_000132.4:c.599A>G MANE Select | NP_000123.1:p.Glu200Gly |