gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46009497T>G , CM000682.2:g.46009497T>G | GRCh38 |
| NC_000020.10:g.44638136T>G , CM000682.1:g.44638136T>G | GRCh37 |
| NC_000020.9:g.44071543T>G | NCBI36 |
| NG_011468.1:g.5590T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372330.3:c.139-369T>G MANE Select | ENSP00000361405.3:n.139-369T>G | |
| NM_004994.2:c.139-369T>G | NP_004985.2:n.139-369T>G | |
| NM_004994.3:c.139-369T>G MANE Select | NP_004985.2:n.139-369T>G |