Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1443084G= , CM000667.2:g.1443084G= | GRCh38 |
| NC_000005.9:g.1443199G= , CM000667.1:g.1443199G= | GRCh37 |
| NC_000005.8:g.1496199G= | NCBI36 |
| NG_015885.1:g.7345C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001044.5:c.114C= MANE Select | NP_001035.1:p.Asn38= |
| ENST00000270349.12:c.114C= MANE Select | ENSP00000270349.9:p.Asn38= |
| NM_001044.4:c.114C= | NP_001035.1:p.Asn38= |
| ENST00000270349.11:c.114C= | ENSP00000270349.9:p.Asn38= |