Linked Data
ClinVar Variation Id:
1165568
dbSNP Id:
rs781812519
ExAC:
X:148571957 C / T
gnomAD v2:
X-148571957-C-T
gnomAD v3:
X-149490426-C-T
gnomAD v4:
X-149490426-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.149490426C>T , CM000685.2:g.149490426C>T | GRCh38 |
| NC_000023.10:g.148571957C>T , CM000685.1:g.148571957C>T | GRCh37 |
| NC_000023.9:g.148379862C>T | NCBI36 |
| NG_011900.3:g.19909G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340855.11:c.894G>A MANE Select | ENSP00000339801.6:p.Gln298= | |
| ENST00000651111.1:c.261G>A | ENSP00000498395.1:p.Gln87= | |
| ENST00000340855.10:c.894G>A | ENSP00000339801.6:p.Gln298= | |
| ENST00000370441.8:c.894G>A | ENSP00000359470.4:p.Gln298= | |
| ENST00000422081.6:c.261G>A | ENSP00000477056.1:p.Gln87= | |
| ENST00000441880.1:n.114-3328G>A | ||
| ENST00000464251.5:c.820G>A | ENSP00000428980.1:n.820G>A | |
| ENST00000466323.5:c.*85G>A | ENSP00000418264.1:n.*85G>A | |
| ENST00000490775.5:n.679G>A | ||
| NM_000202.6:c.894G>A | NP_000193.1:p.Gln298= | |
| NM_001166550.2:c.624G>A | NP_001160022.1:p.Gln208= | |
| NM_006123.4:c.894G>A | NP_006114.1:p.Gln298= | |
| NR_104128.1:n.1241G>A | ||
| NM_000202.7:c.894G>A | NP_000193.1:p.Gln298= | |
| NM_001166550.3:c.624G>A | NP_001160022.1:p.Gln208= | |
| NM_000202.8:c.894G>A MANE Select | NP_000193.1:p.Gln298= | |
| NM_001166550.4:c.624G>A | NP_001160022.1:p.Gln208= | |
| NM_006123.5:c.894G>A | NP_006114.1:p.Gln298= | |
| NR_104128.2:n.1193G>A |