Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99949729C>T , CM000666.2:g.99949729C>T | GRCh38 |
| NC_000004.11:g.100870886C>T , CM000666.1:g.100870886C>T | GRCh37 |
| NC_000004.10:g.101089909C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296417.6:c.15G>A MANE Select | ENSP00000296417.5:p.Lys5= | |
| ENST00000651623.1:c.15G>A | ENSP00000498935.1:p.Lys5= | |
| ENST00000296417.5:c.15G>A | ENSP00000296417.5:p.Lys5= | |
| ENST00000511203.1:n.571G>A | ||
| ENST00000511319.5:n.540G>A | ||
| ENST00000511348.1:n.200G>A | ||
| ENST00000527366.1:n.99G>A | ||
| ENST00000529158.5:n.64G>A | ||
| NM_002106.3:c.15G>A | NP_002097.1:p.Lys5= | |
| NM_002106.4:c.15G>A MANE Select | NP_002097.1:p.Lys5= |