Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.25123996C>T , CM000669.2:g.25123996C>T | GRCh38 |
| NC_000007.13:g.25163615C>T , CM000669.1:g.25163615C>T | GRCh37 |
| NC_000007.12:g.25130140C>T | NCBI36 |
| NG_023438.1:g.6366G>A , LRG_876:g.6366G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000305786.7:c.124G>A MANE Select | ENSP00000307786.2:p.Gly42Ser | |
| ENST00000305786.6:c.124G>A | ENSP00000307786.2:p.Gly42Ser | |
| ENST00000409409.5:c.124G>A | ENSP00000386270.1:p.Gly42Ser | |
| ENST00000409764.5:c.124G>A | ENSP00000387279.1:p.Gly42Ser | |
| ENST00000413447.1:c.124G>A | ENSP00000416479.1:p.Gly42Ser | |
| NM_018947.5:c.124G>A , LRG_876t1:c.124G>A | NP_061820.1:p.Gly42Ser | |
| NM_018947.6:c.124G>A MANE Select | NP_061820.1:p.Gly42Ser |