Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.136659440T>C , CM000685.2:g.136659440T>C | GRCh38 |
| NC_000023.10:g.135741599T>C , CM000685.1:g.135741599T>C | GRCh37 |
| NC_000023.9:g.135569265T>C | NCBI36 |
| NG_007280.1:g.16264T>C , LRG_141:g.16264T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695724.1:c.*429T>C | ENSP00000512122.1:n.*429T>C | |
| ENST00000695725.1:c.*366T>C | ENSP00000512123.1:n.*366T>C | |
| ENST00000695726.1:n.2779T>C | ||
| ENST00000695729.1:n.3614T>C | ||
| ENST00000370629.7:c.*25T>C MANE Select | ENSP00000359663.2:n.*25T>C | |
| ENST00000370628.2:c.*25T>C | ENSP00000359662.2:n.*25T>C | |
| ENST00000370629.6:c.*25T>C | ENSP00000359663.2:n.*25T>C | |
| NM_000074.2:c.*25T>C , LRG_141t1:c.*25T>C | NP_000065.1:n.*25T>C | |
| NM_000074.3:c.*25T>C MANE Select | NP_000065.1:n.*25T>C |