Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.136659253T>C , CM000685.2:g.136659253T>C | GRCh38 |
| NC_000023.10:g.135741412T>C , CM000685.1:g.135741412T>C | GRCh37 |
| NC_000023.9:g.135569078T>C | NCBI36 |
| NG_007280.1:g.16077T>C , LRG_141:g.16077T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695724.1:c.*242T>C | ENSP00000512122.1:n.*242T>C | |
| ENST00000695725.1:c.*179T>C | ENSP00000512123.1:n.*179T>C | |
| ENST00000695726.1:n.2592T>C | ||
| ENST00000695729.1:n.3427T>C | ||
| ENST00000370629.7:c.624T>C MANE Select | ENSP00000359663.2:p.Ala208= | |
| ENST00000370628.2:c.561T>C | ENSP00000359662.2:p.Ala187= | |
| ENST00000370629.6:c.624T>C | ENSP00000359663.2:p.Ala208= | |
| NM_000074.2:c.624T>C , LRG_141t1:c.624T>C | NP_000065.1:p.Ala208= | |
| NM_000074.3:c.624T>C MANE Select | NP_000065.1:p.Ala208= |