Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91272711G>T , CM000676.2:g.91272711G>T | GRCh38 |
| NC_000014.8:g.91739055G>T , CM000676.1:g.91739055G>T | GRCh37 |
| NC_000014.7:g.90808808G>T | NCBI36 |
| NG_033118.1:g.150134C>A | |
| NG_033118.2:g.150134C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389857.11:c.6001C>A MANE Select | ENSP00000374507.6:p.Arg2001= | |
| ENST00000331194.8:c.1435C>A | ENSP00000330332.8:p.Arg479= | |
| ENST00000389857.10:c.6001C>A | ENSP00000374507.6:p.Arg2001= | |
| ENST00000556726.5:c.2229C>A | ||
| NM_001080414.3:c.6001C>A | NP_001073883.2:p.Arg2001= | |
| XM_011536796.1:c.5893C>A | XP_011535098.1:p.Arg1965= | |
| XM_011536796.2:c.5893C>A | XP_011535098.1:p.Arg1965= | |
| XM_017021336.1:c.3082C>A | XP_016876825.1:p.Arg1028= | |
| NM_001080414.4:c.6001C>A MANE Select | NP_001073883.2:p.Arg2001= |