Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102917293C>G , CM000674.2:g.102917293C>G | GRCh38 |
| NC_000012.11:g.103311071C>G , CM000674.1:g.103311071C>G | GRCh37 |
| NC_000012.10:g.101835201C>G | NCBI36 |
| NG_008690.1:g.5310G>C | |
| NG_008690.2:g.46118G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000546708.5:n.493-68G>C | ||
| ENST00000546844.1:c.-95-68G>C | ENSP00000446658.1:n.-95-68G>C | |
| ENST00000547319.1:n.217-68G>C | ||
| ENST00000551337.5:c.-95-68G>C | ENSP00000447620.1:n.-95-68G>C | |
| ENST00000553106.5:c.-163G>C | ENSP00000448059.1:n.-163G>C | |
| ENST00000635500.1:n.29-4395G>C | ||
| NM_000277.1:c.-163G>C | NP_000268.1:n.-163G>C | |
| NM_000277.2:c.-163G>C | NP_000268.1:n.-163G>C | |
| NM_001354304.1:c.-95-68G>C | NP_001341233.1:n.-95-68G>C | |
| NM_001354304.2:c.-95-68G>C | NP_001341233.1:n.-95-68G>C |