Linked Data
ClinVar Variation Id:
294562
ClinVar RCV Id:
RCV000294081
dbSNP Id:
rs10922153
gnomAD v2:
1-196978615-T-G
gnomAD v3:
1-197009485-T-G
gnomAD v4:
1-197009485-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197009485T>G , CM000663.2:g.197009485T>G | GRCh38 |
| NC_000001.10:g.196978615T>G , CM000663.1:g.196978615T>G | GRCh37 |
| NC_000001.9:g.195245238T>G | NCBI36 |
| NG_016365.1:g.36949T>G , LRG_227:g.36949T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000256785.5:c.*802T>G MANE Select | ENSP00000256785.4:n.*802T>G | |
| ENST00000256785.4:c.*802T>G | ENSP00000256785.4:n.*802T>G | |
| NM_030787.3:c.*802T>G , LRG_227t1:c.*802T>G | NP_110414.1:n.*802T>G | |
| XM_011510020.1:c.*802T>G | XP_011508322.1:n.*802T>G | |
| XM_011510020.2:c.*802T>G | XP_011508322.1:n.*802T>G | |
| NM_030787.4:c.*802T>G MANE Select | NP_110414.1:n.*802T>G |