Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.60945369C= , CM000667.2:g.60945369C= | GRCh38 |
| NC_000005.9:g.60241196C= , CM000667.1:g.60241196C= | GRCh37 |
| NC_000005.8:g.60276953C= | NCBI36 |
| NG_008978.1:g.5241C= | |
| NG_009289.1:g.4710G= , LRG_466:g.4710G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_174889.5:c.114C= MANE Select | NP_777549.1:p.Tyr38= |
| ENST00000296597.10:c.114C= MANE Select | ENSP00000296597.5:p.Tyr38= |
| NM_174889.4:c.114C= | NP_777549.1:p.Tyr38= |
| ENST00000296597.9:c.114C= | ENSP00000296597.5:p.Tyr38= |
| ENST00000502658.1:c.35C= | |
| ENST00000511107.1:c.114C= | ENSP00000423377.1:p.Tyr38= |
| ENST00000677756.1:c.114C= | ENSP00000503642.1:p.Tyr38= |
| ENST00000677932.1:c.114C= | ENSP00000504750.1:p.Tyr38= |
| ENST00000678452.1:c.114C= | ENSP00000504248.1:p.Tyr38= |