Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94426435A>C , CM000669.2:g.94426435A>C | GRCh38 |
| NC_000007.13:g.94055747A>C , CM000669.1:g.94055747A>C | GRCh37 |
| NC_000007.12:g.93893683A>C | NCBI36 |
| NG_007405.1:g.36875A>C , LRG_2:g.36875A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.3010A>C MANE Select | ENSP00000297268.6:p.Ile1004Leu | |
| ENST00000297268.10:c.3010A>C | ENSP00000297268.6:p.Ile1004Leu | |
| ENST00000478215.1:n.569A>C | ||
| ENST00000481570.5:n.2983A>C | ||
| ENST00000620463.1:c.3004A>C | ENSP00000477719.1:p.Ile1002Leu | |
| NM_000089.3:c.3010A>C , LRG_2t1:c.3010A>C | NP_000080.2:p.Ile1004Leu | |
| NM_000089.4:c.3010A>C MANE Select | NP_000080.2:p.Ile1004Leu |