Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.136659315T= , CM000685.2:g.136659315T= | GRCh38 |
| NC_000023.10:g.135741474T= , CM000685.1:g.135741474T= | GRCh37 |
| NC_000023.9:g.135569140T= | NCBI36 |
| NG_007280.1:g.16139T= , LRG_141:g.16139T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695724.1:c.*304T= | ENSP00000512122.1:n.*304T= | |
| ENST00000695725.1:c.*241T= | ENSP00000512123.1:n.*241T= | |
| ENST00000695726.1:n.2654T= | ||
| ENST00000695729.1:n.3489T= | ||
| ENST00000370629.7:c.686T= MANE Select | ENSP00000359663.2:p.Phe229= | |
| ENST00000370628.2:c.623T= | ENSP00000359662.2:p.Phe208= | |
| ENST00000370629.6:c.686T= | ENSP00000359663.2:p.Phe229= | |
| NM_000074.2:c.686T= , LRG_141t1:c.686T= | NP_000065.1:p.Phe229= | |
| NM_000074.3:c.686T= MANE Select | NP_000065.1:p.Phe229= |