Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.143467126C>G , CM000665.2:g.143467126C>G | GRCh38 |
| NC_000003.11:g.143185968C>G , CM000665.1:g.143185968C>G | GRCh37 |
| NC_000003.10:g.144668658C>G | NCBI36 |
| NG_017077.1:g.386406G>C | |
| NG_017077.2:g.386406G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_173653.4:c.1380G>C MANE Select | NP_775924.1:p.Met460Ile |
| ENST00000316549.11:c.1380G>C MANE Select | ENSP00000320246.6:p.Met460Ile |
| NM_173653.3:c.1380G>C | NP_775924.1:p.Met460Ile |
| ENST00000316549.10:c.1380G>C | ENSP00000320246.6:p.Met460Ile |
| XM_011512703.1:c.732G>C | XP_011511005.1:p.Met244Ile |
| XM_011512703.3:c.732G>C | XP_011511005.1:p.Met244Ile |
| XM_017006202.2:c.1380G>C | XP_016861691.1:p.Met460Ile |
| XM_017006203.1:c.1029G>C | XP_016861692.1:p.Met343Ile |