Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.140114853G>C , CM000667.2:g.140114853G>C | GRCh38 |
| NC_000005.9:g.139494438G>C , CM000667.1:g.139494438G>C | GRCh37 |
| NC_000005.8:g.139474622G>C | NCBI36 |
| NG_041813.1:g.5731G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331327.5:c.672G>C MANE Select | ENSP00000332706.3:p.Leu224Phe | |
| ENST00000651386.1:c.672G>C | ENSP00000499133.1:p.Leu224Phe | |
| ENST00000331327.4:c.672G>C | ENSP00000332706.3:p.Leu224Phe | |
| NM_005859.4:c.672G>C | NP_005850.1:p.Leu224Phe | |
| NM_005859.5:c.672G>C MANE Select | NP_005850.1:p.Leu224Phe |