Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202464950C= , CM000664.2:g.202464950C= | GRCh38 |
| NC_000002.11:g.203329673C= , CM000664.1:g.203329673C= | GRCh37 |
| NC_000002.10:g.203037918C= | NCBI36 |
| NG_009363.1:g.93624C= , LRG_712:g.93624C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001204.7:c.218C= MANE Select | NP_001195.2:p.Ser73= |
| ENST00000374580.10:c.218C= MANE Select | ENSP00000363708.4:p.Ser73= |
| NM_001204.6:c.218C= , LRG_712t1:c.218C= | NP_001195.2:p.Ser73= |
| ENST00000374574.2:c.218C= | ENSP00000363702.2:p.Ser73= |
| ENST00000374580.8:c.218C= | ENSP00000363708.4:p.Ser73= |
| ENST00000479069.1:n.125C= | |
| ENST00000638587.1:c.143C= | ENSP00000491062.1:p.Ser48= |
| XM_011511687.1:c.218C= | XP_011509989.1:p.Ser73= |
| XM_011511688.1:c.218C= | XP_011509990.1:p.Ser73= |