Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41397803G>C , CM000681.2:g.41397803G>C | GRCh38 |
| NC_000019.9:g.41903708G>C , CM000681.1:g.41903708G>C | GRCh37 |
| NC_000019.8:g.46595548G>C | NCBI36 |
| NG_013004.1:g.5015G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000709.3:c.-25G>C | NP_000700.1:n.-25G>C |
| NM_001164783.1:c.-25G>C | NP_001158255.1:n.-25G>C |
| ENST00000269980.6:c.-25G>C | ENSP00000269980.2:n.-25G>C |
| ENST00000540732.3:c.211-12834G>C | ENSP00000443246.1:n.211-12834G>C |
| ENST00000595085.5:c.-25G>C | ENSP00000471150.2:n.-25G>C |
| ENST00000604424.1:n.351-12834G>C |