Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99949738A>G , CM000666.2:g.99949738A>G | GRCh38 |
| NC_000004.11:g.100870895A>G , CM000666.1:g.100870895A>G | GRCh37 |
| NC_000004.10:g.101089918A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296417.6:c.6T>C MANE Select | ENSP00000296417.5:p.Ala2= | |
| ENST00000651623.1:c.6T>C | ENSP00000498935.1:p.Ala2= | |
| ENST00000296417.5:c.6T>C | ENSP00000296417.5:p.Ala2= | |
| ENST00000511203.1:n.562T>C | ||
| ENST00000511319.5:n.531T>C | ||
| ENST00000511348.1:n.191T>C | ||
| ENST00000527366.1:n.90T>C | ||
| ENST00000529158.5:n.55T>C | ||
| NM_002106.3:c.6T>C | NP_002097.1:p.Ala2= | |
| NM_002106.4:c.6T>C MANE Select | NP_002097.1:p.Ala2= |