Linked Data
ClinVar Variation Id:
418553
dbSNP Id:
rs763534805
gnomAD v2:
X-136648869-G-C
gnomAD v4:
X-137566710-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.137566710G>C , CM000685.2:g.137566710G>C | GRCh38 |
| NC_000023.10:g.136648869G>C , CM000685.1:g.136648869G>C | GRCh37 |
| NC_000023.9:g.136476535G>C | NCBI36 |
| NG_008115.1:g.5524G>C | |
| NG_008115.2:g.5584G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287538.10:c.19G>C MANE Select | ENSP00000287538.5:p.Gly7Arg | |
| ENST00000287538.9:c.19G>C | ENSP00000287538.5:p.Gly7Arg | |
| ENST00000370606.3:c.19G>C | ENSP00000359638.3:p.Gly7Arg | |
| NM_003413.3:c.19G>C | NP_003404.1:p.Gly7Arg | |
| NM_001330661.1:c.19G>C | NP_001317590.1:p.Gly7Arg | |
| NM_003413.4:c.19G>C MANE Select | NP_003404.1:p.Gly7Arg |