Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154379237C>T , CM000685.2:g.154379237C>T | GRCh38 |
| NC_000023.10:g.153607597C>T , CM000685.1:g.153607597C>T | GRCh37 |
| NC_000023.9:g.153260791C>T | NCBI36 |
| NG_008677.1:g.9802C>T , LRG_745:g.9802C>T | |
| NG_011506.1:g.410G>A | |
| NG_011506.2:g.402G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369842.8:c.-248C>T | ENSP00000358857.4:n.-248C>T | |
| NM_000117.2:c.-248C>T , LRG_745t1:c.-248C>T | NP_000108.1:n.-248C>T | |
| XM_024452349.1:c.-456C>T | XP_024308117.1:n.-456C>T |