Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.78534560C>G , CM000666.2:g.78534560C>G | GRCh38 |
| NC_000004.11:g.79455714C>G , CM000666.1:g.79455714C>G | GRCh37 |
| NC_000004.10:g.79674738C>G | NCBI36 |
| NG_015812.1:g.481991C>G | |
| NG_015812.2:g.481991C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000512123.4:c.11037C>G MANE Select | ENSP00000422834.2:p.Pro3679= | |
| ENST00000512123.3:c.11037C>G | ENSP00000422834.2:p.Pro3679= | |
| NM_025074.6:c.11037C>G | NP_079350.5:p.Pro3679= | |
| XM_006714314.1:c.11031C>G | XP_006714377.1:p.Pro3677= | |
| XM_006714316.1:c.10809C>G | XP_006714379.1:p.Pro3603= | |
| XM_011532270.1:c.8736C>G | XP_011530572.1:p.Pro2912= | |
| XM_011532271.1:c.5925C>G | XP_011530573.1:p.Pro1975= | |
| XM_006714316.3:c.10809C>G | XP_006714379.1:p.Pro3603= | |
| NM_025074.7:c.11037C>G MANE Select | NP_079350.5:p.Pro3679= |