Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91272712A>G , CM000676.2:g.91272712A>G | GRCh38 |
| NC_000014.8:g.91739056A>G , CM000676.1:g.91739056A>G | GRCh37 |
| NC_000014.7:g.90808809A>G | NCBI36 |
| NG_033118.1:g.150133T>C | |
| NG_033118.2:g.150133T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389857.11:c.6000T>C MANE Select | ENSP00000374507.6:p.Ser2000= | |
| ENST00000331194.8:c.1434T>C | ENSP00000330332.8:p.Ser478= | |
| ENST00000389857.10:c.6000T>C | ENSP00000374507.6:p.Ser2000= | |
| ENST00000556726.5:c.2228T>C | ||
| NM_001080414.3:c.6000T>C | NP_001073883.2:p.Ser2000= | |
| XM_011536796.1:c.5892T>C | XP_011535098.1:p.Ser1964= | |
| XM_011536796.2:c.5892T>C | XP_011535098.1:p.Ser1964= | |
| XM_017021336.1:c.3081T>C | XP_016876825.1:p.Ser1027= | |
| NM_001080414.4:c.6000T>C MANE Select | NP_001073883.2:p.Ser2000= |