Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189007534C>A , CM000664.2:g.189007534C>A | GRCh38 |
| NC_000002.11:g.189872260C>A , CM000664.1:g.189872260C>A | GRCh37 |
| NC_000002.10:g.189580505C>A | NCBI36 |
| NG_007404.1:g.38162C>A , LRG_3:g.38162C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.3191C>A | ENSP00000415346.2:p.Thr1064Lys | |
| ENST00000304636.9:c.3290C>A MANE Select | ENSP00000304408.4:p.Thr1097Lys | |
| ENST00000304636.7:c.3290C>A | ENSP00000304408.3:p.Thr1097Lys | |
| ENST00000317840.9:c.2528-520C>A | ENSP00000315243.6:n.2528-520C>A | |
| NM_000090.3:c.3290C>A , LRG_3t1:c.3290C>A | NP_000081.1:p.Thr1097Lys | |
| NM_000090.4:c.3290C>A MANE Select | NP_000081.2:p.Thr1097Lys |