Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61401787T>C , CM000679.2:g.61401787T>C | GRCh38 |
| NC_000017.10:g.59479148T>C , CM000679.1:g.59479148T>C | GRCh37 |
| NC_000017.9:g.56833930T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000240328.4:c.499T>C MANE Select | ENSP00000240328.3:p.Phe167Leu | |
| ENST00000240328.3:c.499T>C | ENSP00000240328.3:p.Phe167Leu | |
| ENST00000419047.5:c.*36T>C | ENSP00000404781.1:n.*36T>C | |
| ENST00000477081.1:n.311T>C | ||
| NM_005994.3:c.499T>C | NP_005985.3:p.Phe167Leu | |
| XM_011525158.1:c.499T>C | XP_011523460.1:p.Phe167Leu | |
| NM_005994.4:c.499T>C MANE Select | NP_005985.3:p.Phe167Leu |