Linked Data
ClinVar Variation Id:
1077600
ClinVar RCV Id:
RCV001392224
dbSNP Id:
rs772164739
ExAC:
X:119582919 A / G
gnomAD v2:
X-119582919-A-G
gnomAD v3:
X-120449064-A-G
gnomAD v4:
X-120449064-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.120449064A>G , CM000685.2:g.120449064A>G | GRCh38 |
| NC_000023.10:g.119582919A>G , CM000685.1:g.119582919A>G | GRCh37 |
| NC_000023.9:g.119466947A>G | NCBI36 |
| NG_007995.1:g.25286T>C , LRG_749:g.25286T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706600.1:c.462T>C | ENSP00000516464.1:p.Asn154= | |
| ENST00000200639.9:c.462T>C MANE Select | ENSP00000200639.4:p.Asn154= | |
| ENST00000200639.8:c.462T>C | ENSP00000200639.4:p.Asn154= | |
| ENST00000371335.4:c.462T>C | ENSP00000360386.4:p.Asn154= | |
| ENST00000434600.6:c.462T>C | ENSP00000408411.2:p.Asn154= | |
| ENST00000486593.5:c.5T>C | ||
| NM_001122606.1:c.462T>C , LRG_749t3:c.462T>C | NP_001116078.1:p.Asn154= | |
| NM_002294.2:c.462T>C , LRG_749t1:c.462T>C | NP_002285.1:p.Asn154= | |
| NM_013995.2:c.462T>C , LRG_749t2:c.462T>C | NP_054701.1:p.Asn154= | |
| NM_002294.3:c.462T>C MANE Select | NP_002285.1:p.Asn154= |