ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001746 (AFR)
Genomes Max Group AF
0.00001919 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48468023T>G , CM000677.2:g.48468023T>G | GRCh38 |
| NC_000015.9:g.48760220T>G , CM000677.1:g.48760220T>G | GRCh37 |
| NC_000015.8:g.46547512T>G | NCBI36 |
| NG_008805.2:g.182766A>C , LRG_778:g.182766A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.4662A>C | ENSP00000453958.2:p.Gly1554= | |
| ENST00000674301.2:c.4662A>C | ENSP00000501333.2:p.Gly1554= | |
| ENST00000684448.1:n.3336A>C | ||
| ENST00000316623.10:c.4662A>C MANE Select | ENSP00000325527.5:p.Gly1554= | |
| ENST00000316623.9:c.4662A>C | ENSP00000325527.5:p.Gly1554= | |
| ENST00000537463.6:c.*425A>C | ENSP00000440294.2:n.*425A>C | |
| NM_000138.4:c.4662A>C , LRG_778t1:c.4662A>C | NP_000129.3:p.Gly1554= | |
| NM_000138.5:c.4662A>C MANE Select | NP_000129.3:p.Gly1554= |