Linked Data
ClinVar Variation Id:
97198
dbSNP Id:
rs68026851
ExAC:
X:38260563 G / C
gnomAD v2:
X-38260563-G-C
gnomAD v4:
X-38401310-G-C
PubMed:
PMID:9266388
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38401310G>C , CM000685.2:g.38401310G>C | GRCh38 |
| NC_000023.10:g.38260563G>C , CM000685.1:g.38260563G>C | GRCh37 |
| NC_000023.9:g.38145507G>C | NCBI36 |
| NG_008471.1:g.53828G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000039007.5:c.422G>C MANE Select | ENSP00000039007.4:p.Arg141Pro | |
| ENST00000643344.1:c.*172G>C | ENSP00000496606.1:n.*172G>C | |
| ENST00000039007.4:c.422G>C | ENSP00000039007.4:p.Arg141Pro | |
| ENST00000465127.1:c.172-264811G>C | ENSP00000417050.1:n.172-264811G>C | |
| ENST00000488812.1:n.459G>C | ||
| NM_000531.5:c.422G>C | NP_000522.3:p.Arg141Pro | |
| XM_017029556.1:c.422G>C | XP_016885045.1:p.Arg141Pro | |
| NM_000531.6:c.422G>C MANE Select | NP_000522.3:p.Arg141Pro |