gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000448 (AFR)
Genomes Max Group AF
0.00000801 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.181509807A>C , CM000664.2:g.181509807A>C | GRCh38 |
| NC_000002.11:g.182374534A>C , CM000664.1:g.182374534A>C | GRCh37 |
| NC_000002.10:g.182082779A>C | NCBI36 |
| NG_050623.1:g.57916A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397033.7:c.1845A>C MANE Select | ENSP00000380227.2:p.Thr615= | |
| ENST00000397033.6:c.1845A>C | ENSP00000380227.2:p.Thr615= | |
| ENST00000476824.1:n.356A>C | ||
| ENST00000490435.5:n.647A>C | ||
| NM_000885.4:c.1845A>C | NP_000876.3:p.Thr615= | |
| NM_000885.5:c.1845A>C | NP_000876.3:p.Thr615= | |
| NM_000885.6:c.1845A>C MANE Select | NP_000876.3:p.Thr615= |