Linked Data
dbSNP Id:
rs1190739
gnomAD v2:
X-136055295-T-C
gnomAD v3:
X-136973136-T-C
gnomAD v4:
X-136973136-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.136973136T>C , CM000685.2:g.136973136T>C | GRCh38 |
| NC_000023.10:g.136055295T>C , CM000685.1:g.136055295T>C | GRCh37 |
| NC_000023.9:g.135882961T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000431464.6:n.521+47757T>C | ||
| ENST00000650669.2:n.413-48276T>C | ||
| ENST00000685550.1:n.389-29189T>C | ||
| ENST00000685929.1:n.389-20350T>C | ||
| ENST00000686432.1:n.459-48276T>C | ||
| ENST00000687469.1:n.399-20350T>C | ||
| ENST00000687978.1:n.829+47757T>C | ||
| ENST00000688713.1:n.365-21711T>C | ||
| ENST00000693626.1:n.357+63356T>C | ||
| ENST00000693698.1:n.581-21711T>C | ||
| ENST00000650669.1:n.413-48276T>C | ||
| ENST00000424306.5:n.2053-20350T>C | ||
| ENST00000426943.4:n.463+9685T>C | ||
| ENST00000431464.5:n.439+47757T>C |