Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94426442G>C , CM000669.2:g.94426442G>C | GRCh38 |
| NC_000007.13:g.94055754G>C , CM000669.1:g.94055754G>C | GRCh37 |
| NC_000007.12:g.93893690G>C | NCBI36 |
| NG_007405.1:g.36882G>C , LRG_2:g.36882G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000297268.11:c.3017G>C MANE Select | ENSP00000297268.6:p.Gly1006Ala | |
| ENST00000297268.10:c.3017G>C | ENSP00000297268.6:p.Gly1006Ala | |
| ENST00000478215.1:n.576G>C | ||
| ENST00000481570.5:n.2990G>C | ||
| ENST00000620463.1:c.3011G>C | ENSP00000477719.1:p.Gly1004Ala | |
| NM_000089.3:c.3017G>C , LRG_2t1:c.3017G>C | NP_000080.2:p.Gly1006Ala | |
| NM_000089.4:c.3017G>C MANE Select | NP_000080.2:p.Gly1006Ala |