Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6379284T>C , CM000674.2:g.6379284T>C | GRCh38 |
| NC_000012.11:g.6488450T>C , CM000674.1:g.6488450T>C | GRCh37 |
| NC_000012.10:g.6358711T>C | NCBI36 |
| NG_011945.1:g.3074A>G | |
| NG_033039.1:g.8917T>C | |
| NG_011945.2:g.3074A>G | |
| NG_033039.2:g.8917T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001270987.1:c.39+3690T>C | NP_001257916.1:n.39+3690T>C |
| NM_001270987.2:c.39+3690T>C | NP_001257916.1:n.39+3690T>C |
| ENST00000539925.5:c.39+3690T>C | ENSP00000440875.1:n.39+3690T>C |
| ENST00000542830.5:n.265+3690T>C | |
| ENST00000546296.5:n.550+3690T>C |