Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15889427C>T , CM000681.2:g.15889427C>T | GRCh38 |
| NC_000019.9:g.16000237C>T , CM000681.1:g.16000237C>T | GRCh37 |
| NC_000019.8:g.15861237C>T | NCBI36 |
| NG_007971.2:g.13648G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221700.11:c.914G>A MANE Select | ENSP00000221700.3:p.Ser305Asn | |
| ENST00000011989.11:c.914G>A | ENSP00000011989.8:p.Ser305Asn | |
| ENST00000221700.10:c.914G>A | ENSP00000221700.3:p.Ser305Asn | |
| ENST00000392846.7:n.857G>A | ||
| ENST00000587671.2:c.*499G>A | ENSP00000467443.2:n.*499G>A | |
| NM_001082.4:c.914G>A | NP_001073.3:p.Ser305Asn | |
| NM_001082.5:c.914G>A MANE Select | NP_001073.3:p.Ser305Asn |