Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.59024626G>A , CM000682.2:g.59024626G>A | GRCh38 |
| NC_000020.10:g.57599681G>A , CM000682.1:g.57599681G>A | GRCh37 |
| NC_000020.9:g.57033076G>A | NCBI36 |
| NG_023424.2:g.10373G>A , LRG_581:g.10373G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_030773.4:c.1199G>A MANE Select | NP_110400.1:p.Ser400Asn |
| ENST00000217133.2:c.1199G>A MANE Select | ENSP00000217133.1:p.Ser400Asn |
| NM_030773.3:c.1199G>A , LRG_581t1:c.1199G>A | NP_110400.1:p.Ser400Asn |
| ENST00000217133.1:c.1199G>A | ENSP00000217133.1:p.Ser400Asn |
| XM_017028085.1:c.1133G>A | XP_016883574.1:p.Ser378Asn |