Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91272430T= , CM000676.2:g.91272430T= | GRCh38 |
| NC_000014.8:g.91738774T= , CM000676.1:g.91738774T= | GRCh37 |
| NC_000014.7:g.90808527T= | NCBI36 |
| NG_033118.1:g.150415A= | |
| NG_033118.2:g.150415A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389857.11:c.*195A= MANE Select | ENSP00000374507.6:n.*195A= | |
| ENST00000331194.8:c.*195A= | ENSP00000330332.8:n.*195A= | |
| ENST00000389857.10:c.*195A= | ENSP00000374507.6:n.*195A= | |
| ENST00000556726.5:c.2510A= | ||
| NM_001080414.3:c.*195A= | NP_001073883.2:n.*195A= | |
| XM_011536796.1:c.*195A= | XP_011535098.1:n.*195A= | |
| XM_011536796.2:c.*195A= | XP_011535098.1:n.*195A= | |
| XM_017021336.1:c.*195A= | XP_016876825.1:n.*195A= | |
| NM_001080414.4:c.*195A= MANE Select | NP_001073883.2:n.*195A= |