Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154999527A>G , CM000685.2:g.154999527A>G | GRCh38 |
| NC_000023.10:g.154227802A>G , CM000685.1:g.154227802A>G | GRCh37 |
| NC_000023.9:g.153880996A>G | NCBI36 |
| NG_011403.1:g.28197T>C | |
| NG_011403.2:g.28197T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000132.4:c.217T>C MANE Select | NP_000123.1:p.Phe73Leu |
| ENST00000360256.9:c.217T>C MANE Select | ENSP00000353393.4:p.Phe73Leu |
| NM_000132.3:c.217T>C | NP_000123.1:p.Phe73Leu |
| ENST00000360256.8:c.217T>C | ENSP00000353393.4:p.Phe73Leu |
| ENST00000423959.5:c.112T>C | ENSP00000409446.1:p.Phe38Leu |
| ENST00000453950.1:c.199T>C | ENSP00000389153.1:p.Phe67Leu |
| ENST00000647125.1:c.*3T>C | ENSP00000496062.1:n.*3T>C |
| XM_011531126.1:c.112T>C | XP_011529428.1:p.Phe38Leu |