Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.165434666G>T , CM000663.2:g.165434666G>T | GRCh38 |
| NC_000001.10:g.165403903G>T , CM000663.1:g.165403903G>T | GRCh37 |
| NC_000001.9:g.163670527G>T | NCBI36 |
| NG_029517.1:g.15690C>A | |
| NG_029517.2:g.15690C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006917.5:c.50-5700C>A MANE Select | NP_008848.1:n.50-5700C>A |
| ENST00000359842.10:c.50-5700C>A MANE Select | ENSP00000352900.5:n.50-5700C>A |
| NM_001256570.1:c.-378-5700C>A | NP_001243499.1:n.-378-5700C>A |
| NM_001256570.2:c.-378-5700C>A | NP_001243499.1:n.-378-5700C>A |
| NM_006917.4:c.50-5700C>A | NP_008848.1:n.50-5700C>A |
| ENST00000359842.9:c.50-5700C>A | ENSP00000352900.5:n.50-5700C>A |
| ENST00000619224.1:c.-378-5700C>A | ENSP00000482458.1:n.-378-5700C>A |