Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178014291T>A , CM000664.2:g.178014291T>A | GRCh38 |
| NC_000002.11:g.178879018T>A , CM000664.1:g.178879018T>A | GRCh37 |
| NC_000002.10:g.178587264T>A | NCBI36 |
| NG_012168.1:g.99049A>T | |
| NG_012168.2:g.99049A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286063.11:c.1071+11A>T MANE Select | ENSP00000286063.5:n.1071+11A>T | |
| ENST00000286063.10:c.1071+11A>T | ENSP00000286063.5:n.1071+11A>T | |
| ENST00000358450.8:c.321+11A>T | ENSP00000351232.4:n.321+11A>T | |
| NM_001077197.1:c.321+11A>T | NP_001070665.1:n.321+11A>T | |
| NM_016953.3:c.1071+11A>T | NP_058649.3:n.1071+11A>T | |
| NM_016953.4:c.1071+11A>T MANE Select | NP_058649.3:n.1071+11A>T | |
| NM_001077197.2:c.321+11A>T | NP_001070665.1:n.321+11A>T |