Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.74421781G>T , CM000685.2:g.74421781G>T | GRCh38 |
| NC_000023.10:g.73641616G>T , CM000685.1:g.73641616G>T | GRCh37 |
| NC_000023.9:g.73558341G>T | NCBI36 |
| NG_011641.1:g.5532G>T | |
| NG_011641.2:g.5532G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000587091.6:c.144G>T MANE Select | ENSP00000465734.1:p.Pro48= | |
| ENST00000587091.5:c.144G>T | ENSP00000465734.1:p.Pro48= | |
| NM_006517.4:c.144G>T | NP_006508.2:p.Pro48= | |
| XM_005262294.1:c.144G>T | XP_005262351.1:p.Pro48= | |
| XM_011531015.1:c.144G>T | XP_011529317.1:p.Pro48= | |
| NM_006517.5:c.144G>T MANE Select | NP_006508.2:p.Pro48= |