Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.14769052C= , CM000667.2:g.14769052C= | GRCh38 |
| NC_000005.9:g.14769161C= , CM000667.1:g.14769161C= | GRCh37 |
| NC_000005.8:g.14822161C= | NCBI36 |
| NG_008273.1:g.107727G= | |
| NG_008273.2:g.107734G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284268.8:c.236G= MANE Select | ENSP00000284268.6:p.Ser79= | |
| ENST00000646501.1:c.99G= | ||
| ENST00000284268.6:c.236G= | ENSP00000284268.6:p.Ser79= | |
| ENST00000503389.1:n.242G= | ||
| ENST00000513115.1:n.261G= | ||
| NM_054027.4:c.236G= | NP_473368.1:p.Ser79= | |
| XM_011514067.1:c.236G= | XP_011512369.1:p.Ser79= | |
| NM_054027.5:c.236G= | NP_473368.1:p.Ser79= | |
| XM_017009644.2:c.152G= | XP_016865133.1:p.Ser51= | |
| NM_054027.6:c.236G= MANE Select | NP_473368.1:p.Ser79= |