Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.10309527G>A , CM000679.2:g.10309527G>A | GRCh38 |
| NC_000017.10:g.10212844G>A , CM000679.1:g.10212844G>A | GRCh37 |
| NC_000017.9:g.10153569G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252172.9:c.4960C>T MANE Select | ENSP00000252172.4:p.Leu1654Phe | |
| ENST00000418404.8:c.4960C>T | ENSP00000404570.3:p.Leu1654Phe | |
| ENST00000252172.8:c.4960C>T | ENSP00000252172.4:p.Leu1654Phe | |
| ENST00000418404.7:c.4960C>T | ENSP00000404570.3:p.Leu1654Phe | |
| ENST00000621918.1:c.4960C>T | ENSP00000480864.1:p.Leu1654Phe | |
| NM_003802.2:c.4960C>T | NP_003793.2:p.Leu1654Phe | |
| NM_003802.3:c.4960C>T MANE Select | NP_003793.2:p.Leu1654Phe |