Linked Data
ClinVar Variation Id:
285756
dbSNP Id:
rs776256380
ExAC:
X:85213970 G / A
gnomAD v2:
X-85213970-G-A
gnomAD v4:
X-85958965-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.85958965G>A , CM000685.2:g.85958965G>A | GRCh38 |
| NC_000023.10:g.85213970G>A , CM000685.1:g.85213970G>A | GRCh37 |
| NC_000023.9:g.85100626G>A | NCBI36 |
| NG_009874.2:g.93598C>T , LRG_699:g.93598C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000357749.7:c.715C>T MANE Select | ENSP00000350386.2:p.Arg239Ter | |
| ENST00000357749.6:c.715C>T | ENSP00000350386.2:p.Arg239Ter | |
| ENST00000467744.2:n.126+68526C>T | ||
| NM_000390.2:c.715C>T , LRG_699t1:c.715C>T | NP_000381.1:p.Arg239Ter | |
| XM_006724615.2:c.652C>T | XP_006724678.1:p.Arg218Ter | |
| XM_011530839.1:c.271C>T | XP_011529141.1:p.Arg91Ter | |
| NM_000390.3:c.715C>T | NP_000381.1:p.Arg239Ter | |
| NM_001320959.1:c.271C>T | NP_001307888.1:p.Arg91Ter | |
| NM_001362517.1:c.271C>T | NP_001349446.1:p.Arg91Ter | |
| NM_001362518.1:c.271C>T | NP_001349447.1:p.Arg91Ter | |
| NM_001362519.1:c.271C>T | NP_001349448.1:p.Arg91Ter | |
| XM_017029242.2:c.715C>T | XP_016884731.1:p.Arg239Ter | |
| XM_017029246.1:c.271C>T | XP_016884735.1:p.Arg91Ter | |
| XM_024452331.1:c.271C>T | XP_024308099.1:p.Arg91Ter | |
| NM_000390.4:c.715C>T MANE Select | NP_000381.1:p.Arg239Ter | |
| NM_001362518.2:c.271C>T | NP_001349447.1:p.Arg91Ter |