Linked Data
gnomAD v4:
8-23212141-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.23212141G>C , CM000670.2:g.23212141G>C | GRCh38 |
| NC_000008.10:g.23069654G>C , CM000670.1:g.23069654G>C | GRCh37 |
| NC_000008.9:g.23125599G>C | NCBI36 |
| NG_032107.1:g.18027C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221132.8:c.378C>G MANE Select | ENSP00000221132.3:p.Ser126Arg | |
| ENST00000221132.7:c.378C>G | ENSP00000221132.3:p.Ser126Arg | |
| ENST00000524158.5:c.-229C>G | ENSP00000428884.1:n.-229C>G | |
| ENST00000613472.1:c.32-9482C>G | ENSP00000480778.1:n.32-9482C>G | |
| NM_003844.3:c.378C>G | NP_003835.3:p.Ser126Arg | |
| NM_003844.4:c.378C>G MANE Select | NP_003835.3:p.Ser126Arg |