Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50150075C>G , CM000676.2:g.50150075C>G | GRCh38 |
| NC_000014.8:g.50616793C>G , CM000676.1:g.50616793C>G | GRCh37 |
| NC_000014.7:g.49686543C>G | NCBI36 |
| NG_051073.1:g.86619G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216373.10:c.2317G>C MANE Select | ENSP00000216373.5:p.Asp773His | |
| ENST00000216373.9:c.2317G>C | ENSP00000216373.5:p.Asp773His | |
| ENST00000543680.5:c.2218G>C | ENSP00000445328.1:p.Asp740His | |
| NM_006939.2:c.2317G>C | NP_008870.2:p.Asp773His | |
| XM_005268021.1:c.2137G>C | XP_005268078.1:p.Asp713His | |
| XM_011537103.1:c.2278G>C | XP_011535405.1:p.Asp760His | |
| XM_011537104.1:c.2317G>C | XP_011535406.1:p.Asp773His | |
| NM_006939.3:c.2317G>C | NP_008870.2:p.Asp773His | |
| NM_006939.4:c.2317G>C MANE Select | NP_008870.2:p.Asp773His |