Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.96896790A>G , CM000668.2:g.96896790A>G | GRCh38 |
| NC_000006.11:g.97344666A>G , CM000668.1:g.97344666A>G | GRCh37 |
| NC_000006.10:g.97451387A>G | NCBI36 |
| NG_013379.1:g.6102T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014165.4:c.194T>C MANE Select | NP_054884.1:p.Leu65Pro |
| ENST00000316149.8:c.194T>C MANE Select | ENSP00000358272.4:p.Leu65Pro |
| NM_014165.3:c.194T>C | NP_054884.1:p.Leu65Pro |
| ENST00000316149.7:c.194T>C | ENSP00000358272.4:p.Leu65Pro |
| ENST00000478382.1:n.129T>C | |
| ENST00000489477.1:n.267T>C |