Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.140114375G>T , CM000667.2:g.140114375G>T | GRCh38 |
| NC_000005.9:g.139493960G>T , CM000667.1:g.139493960G>T | GRCh37 |
| NC_000005.8:g.139474144G>T | NCBI36 |
| NG_041813.1:g.5253G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331327.5:c.194G>T MANE Select | ENSP00000332706.3:p.Arg65Leu | |
| ENST00000505703.2:c.194G>T | ENSP00000498560.1:p.Arg65Leu | |
| ENST00000651386.1:c.194G>T | ENSP00000499133.1:p.Arg65Leu | |
| ENST00000331327.4:c.194G>T | ENSP00000332706.3:p.Arg65Leu | |
| NM_005859.4:c.194G>T | NP_005850.1:p.Arg65Leu | |
| NM_005859.5:c.194G>T MANE Select | NP_005850.1:p.Arg65Leu |