Linked Data
dbSNP Id:
rs866889834
gnomAD v2:
X-68049648-G-C
gnomAD v3:
X-68829805-G-C
gnomAD v4:
X-68829805-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.68829805G>C , CM000685.2:g.68829805G>C | GRCh38 |
| NC_000023.10:g.68049648G>C , CM000685.1:g.68049648G>C | GRCh37 |
| NC_000023.9:g.67966373G>C | NCBI36 |
| NG_008887.1:g.5809G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000204961.5:c.29G>C MANE Select | ENSP00000204961.4:p.Gly10Ala | |
| ENST00000204961.4:c.29G>C | ENSP00000204961.4:p.Gly10Ala | |
| NM_004429.4:c.29G>C | NP_004420.1:p.Gly10Ala | |
| NM_004429.5:c.29G>C MANE Select | NP_004420.1:p.Gly10Ala |