Linked Data
ClinVar Variation Id:
11424
ClinVar RCV Id:
RCV000012177
dbSNP Id:
rs104894910
gnomAD v4:
X-41473734-G-C
PubMed:
PMID:16670814
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.41473734G>C , CM000685.2:g.41473734G>C | GRCh38 |
| NC_000023.10:g.41332987G>C , CM000685.1:g.41332987G>C | GRCh37 |
| NC_000023.9:g.41217931G>C | NCBI36 |
| NG_009112.1:g.31275G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342595.3:c.266G>C | ENSP00000340328.3:p.Arg89Pro | |
| ENST00000378220.3:c.266G>C MANE Select | ENSP00000367465.2:p.Arg89Pro | |
| ENST00000378220.2:c.281G>C | ENSP00000367465.1:p.Arg94Pro | |
| ENST00000342595.2:c.281G>C | ENSP00000340328.2:p.Arg94Pro | |
| ENST00000378220.1:c.281G>C | ENSP00000367465.1:p.Arg94Pro | |
| NM_022567.2:c.281G>C | NP_072089.1:p.Arg94Pro | |
| XM_005272632.2:c.281G>C | XP_005272689.1:p.Arg94Pro | |
| XM_017029709.1:c.281G>C | XP_016885198.1:p.Arg94Pro | |
| NM_001378477.3:c.266G>C MANE Select | NP_001365406.2:p.Arg89Pro | |
| NM_022567.3:c.266G>C | NP_072089.2:p.Arg89Pro |