Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5225558A>G , CM000673.2:g.5225558A>G | GRCh38 |
| NC_000011.9:g.5246788A>G , CM000673.1:g.5246788A>G | GRCh37 |
| NC_000011.8:g.5203364A>G | NCBI36 |
| NG_000007.3:g.72058T>C | |
| NG_059281.1:g.6514T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.*40T>C | ENSP00000494175.1:n.*40T>C | |
| ENST00000335295.4:c.*40T>C MANE Select | ENSP00000333994.3:n.*40T>C | |
| ENST00000633227.1:c.*300T>C | ENSP00000488004.1:n.*300T>C | |
| NM_000518.4:c.*40T>C | NP_000509.1:n.*40T>C | |
| NM_000518.5:c.*40T>C MANE Select | NP_000509.1:n.*40T>C |