Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89673321C>A , CM000677.2:g.89673321C>A | GRCh38 |
| NC_000015.9:g.90216552C>A , CM000677.1:g.90216552C>A | GRCh37 |
| NC_000015.8:g.88017556C>A | NCBI36 |
| NG_029172.1:g.11097G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002666.5:c.139G>T MANE Select | NP_002657.3:p.Ala47Ser |
| ENST00000300055.10:c.139G>T MANE Select | ENSP00000300055.5:p.Ala47Ser |
| NM_001145311.1:c.139G>T | NP_001138783.1:p.Ala47Ser |
| NM_001145311.2:c.139G>T | NP_001138783.1:p.Ala47Ser |
| NM_002666.4:c.139G>T | NP_002657.3:p.Ala47Ser |
| ENST00000300055.9:c.139G>T | ENSP00000300055.5:p.Ala47Ser |
| ENST00000430628.2:c.139G>T | ENSP00000402167.2:p.Ala47Ser |
| XM_005254934.3:c.139G>T | XP_005254991.1:p.Ala47Ser |
| XM_005254934.4:c.139G>T | XP_005254991.1:p.Ala47Ser |