Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91272904A>G , CM000676.2:g.91272904A>G | GRCh38 |
| NC_000014.8:g.91739248A>G , CM000676.1:g.91739248A>G | GRCh37 |
| NC_000014.7:g.90809001A>G | NCBI36 |
| NG_033118.1:g.149941T>C | |
| NG_033118.2:g.149941T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389857.11:c.5808T>C MANE Select | ENSP00000374507.6:p.Ala1936= | |
| ENST00000331194.8:c.1242T>C | ENSP00000330332.8:p.Ala414= | |
| ENST00000389857.10:c.5808T>C | ENSP00000374507.6:p.Ala1936= | |
| ENST00000556726.5:c.2036T>C | ||
| NM_001080414.3:c.5808T>C | NP_001073883.2:p.Ala1936= | |
| XM_011536796.1:c.5700T>C | XP_011535098.1:p.Ala1900= | |
| XM_011536796.2:c.5700T>C | XP_011535098.1:p.Ala1900= | |
| XM_017021336.1:c.2889T>C | XP_016876825.1:p.Ala963= | |
| NM_001080414.4:c.5808T>C MANE Select | NP_001073883.2:p.Ala1936= |