Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94425858G>C , CM000669.2:g.94425858G>C | GRCh38 |
| NC_000007.13:g.94055170G>C , CM000669.1:g.94055170G>C | GRCh37 |
| NC_000007.12:g.93893106G>C | NCBI36 |
| NG_007405.1:g.36298G>C , LRG_2:g.36298G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000089.4:c.2943+1G>C MANE Select | NP_000080.2:n.2943+1G>C |
| ENST00000297268.11:c.2943+1G>C MANE Select | ENSP00000297268.6:n.2943+1G>C |
| NM_000089.3:c.2943+1G>C , LRG_2t1:c.2943+1G>C | NP_000080.2:n.2943+1G>C |
| ENST00000297268.10:c.2943+1G>C | ENSP00000297268.6:n.2943+1G>C |
| ENST00000478215.1:n.502+1G>C | |
| ENST00000481570.5:n.2916+1G>C | |
| ENST00000620463.1:c.2937+1G>C | ENSP00000477719.1:n.2937+1G>C |