Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.136659435T>C , CM000685.2:g.136659435T>C | GRCh38 |
| NC_000023.10:g.135741594T>C , CM000685.1:g.135741594T>C | GRCh37 |
| NC_000023.9:g.135569260T>C | NCBI36 |
| NG_007280.1:g.16259T>C , LRG_141:g.16259T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695724.1:c.*424T>C | ENSP00000512122.1:n.*424T>C | |
| ENST00000695725.1:c.*361T>C | ENSP00000512123.1:n.*361T>C | |
| ENST00000695726.1:n.2774T>C | ||
| ENST00000695729.1:n.3609T>C | ||
| ENST00000370629.7:c.*20T>C MANE Select | ENSP00000359663.2:n.*20T>C | |
| ENST00000370628.2:c.*20T>C | ENSP00000359662.2:n.*20T>C | |
| ENST00000370629.6:c.*20T>C | ENSP00000359663.2:n.*20T>C | |
| NM_000074.2:c.*20T>C , LRG_141t1:c.*20T>C | NP_000065.1:n.*20T>C | |
| NM_000074.3:c.*20T>C MANE Select | NP_000065.1:n.*20T>C |