Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21619104A>C , CM000669.2:g.21619104A>C | GRCh38 |
| NC_000007.13:g.21658722A>C , CM000669.1:g.21658722A>C | GRCh37 |
| NC_000007.12:g.21625247A>C | NCBI36 |
| NG_012886.2:g.80890A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.4259A>C MANE Select | ENSP00000475939.1:p.Lys1420Thr | |
| ENST00000328843.10:c.4274A>C | ENSP00000330671.7:p.Lys1425Thr | |
| ENST00000409508.7:c.4259A>C | ENSP00000475939.1:p.Lys1420Thr | |
| ENST00000465593.1:n.285A>C | ||
| ENST00000620169.4:c.4274A>C | ENSP00000481693.1:p.Lys1425Thr | |
| NM_001277115.1:c.4259A>C | NP_001264044.1:p.Lys1420Thr | |
| NM_001277115.2:c.4259A>C MANE Select | NP_001264044.1:p.Lys1420Thr |