Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.74135459A>G , CM000664.2:g.74135459A>G | GRCh38 |
| NC_000002.11:g.74362586A>G , CM000664.1:g.74362586A>G | GRCh37 |
| NC_000002.10:g.74216094A>G | NCBI36 |
| NG_031910.1:g.17454T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_212552.3:c.*134T>C MANE Select | NP_997717.2:n.*134T>C |
| ENST00000327428.10:c.*134T>C MANE Select | ENSP00000331369.5:n.*134T>C |
| NM_001035505.1:c.*63T>C | NP_001030582.1:n.*63T>C |
| NM_001035505.2:c.*63T>C | NP_001030582.1:n.*63T>C |
| NM_212552.2:c.*134T>C | NP_997717.2:n.*134T>C |
| ENST00000295326.4:c.*63T>C | ENSP00000295326.4:n.*63T>C |
| ENST00000327428.9:c.*134T>C | ENSP00000331369.5:n.*134T>C |
| ENST00000469676.1:n.1392T>C | |
| ENST00000477685.5:n.609T>C | |
| ENST00000484655.1:n.2924T>C |