Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.62370328G>T , CM000679.2:g.62370328G>T | GRCh38 |
| NC_000017.10:g.60447689G>T , CM000679.1:g.60447689G>T | GRCh37 |
| NC_000017.9:g.57801420G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001144933.1:c.34+6G>T | NP_001138405.1:n.34+6G>T |
| NM_001144933.2:c.34+6G>T | NP_001138405.1:n.34+6G>T |
| ENST00000450662.6:c.34+6G>T | ENSP00000403932.2:n.34+6G>T |
| ENST00000450662.7:c.34+6G>T | ENSP00000403932.2:n.34+6G>T |
| ENST00000636041.1:n.263+6G>T |