Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.136659206C>A , CM000685.2:g.136659206C>A | GRCh38 |
| NC_000023.10:g.135741365C>A , CM000685.1:g.135741365C>A | GRCh37 |
| NC_000023.9:g.135569031C>A | NCBI36 |
| NG_007280.1:g.16030C>A , LRG_141:g.16030C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695724.1:c.*195C>A | ENSP00000512122.1:n.*195C>A | |
| ENST00000695725.1:c.*132C>A | ENSP00000512123.1:n.*132C>A | |
| ENST00000695726.1:n.2545C>A | ||
| ENST00000695729.1:n.3380C>A | ||
| ENST00000370629.7:c.577C>A MANE Select | ENSP00000359663.2:p.Leu193Ile | |
| ENST00000370628.2:c.514C>A | ENSP00000359662.2:p.Leu172Ile | |
| ENST00000370629.6:c.577C>A | ENSP00000359663.2:p.Leu193Ile | |
| NM_000074.2:c.577C>A , LRG_141t1:c.577C>A | NP_000065.1:p.Leu193Ile | |
| NM_000074.3:c.577C>A MANE Select | NP_000065.1:p.Leu193Ile |