Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17018949G>T , CM000663.2:g.17018949G>T | GRCh38 |
| NC_000001.10:g.17345444G>T , CM000663.1:g.17345444G>T | GRCh37 |
| NC_000001.9:g.17218031G>T | NCBI36 |
| NG_012340.1:g.40222C>A , LRG_316:g.40222C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.604C>A | ENSP00000481376.2:p.Pro202Thr | |
| ENST00000491274.6:c.733C>A | ENSP00000480482.2:p.Pro245Thr | |
| ENST00000375499.8:c.775C>A MANE Select | ENSP00000364649.3:p.Pro259Thr | |
| ENST00000375499.7:c.775C>A | ENSP00000364649.3:p.Pro259Thr | |
| ENST00000475049.5:n.200C>A | ||
| ENST00000485092.5:n.439C>A | ||
| NM_003000.2:c.775C>A , LRG_316t1:c.775C>A | NP_002991.2:p.Pro259Thr | |
| NM_003000.3:c.775C>A MANE Select | NP_002991.2:p.Pro259Thr |