Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229431916C>G , CM000663.2:g.229431916C>G | GRCh38 |
| NC_000001.10:g.229567663C>G , CM000663.1:g.229567663C>G | GRCh37 |
| NC_000001.9:g.227634286C>G | NCBI36 |
| NG_006672.1:g.7181G>C , LRG_429:g.7181G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001100.4:c.809-14G>C MANE Select | NP_001091.1:n.809-14G>C |
| ENST00000366684.7:c.809-14G>C MANE Select | ENSP00000355645.3:n.809-14G>C |
| NM_001100.3:c.809-14G>C , LRG_429t1:c.809-14G>C | NP_001091.1:n.809-14G>C |
| ENST00000366683.3:c.480-54G>C | ENSP00000355644.3:n.480-54G>C |
| ENST00000366683.4:c.809-14G>C | ENSP00000355644.4:n.809-14G>C |
| ENST00000684723.1:c.674-14G>C | ENSP00000508084.1:n.674-14G>C |