Linked Data
dbSNP Id:
rs1441358158
gnomAD v2:
X-153607597-C-G
gnomAD v3:
X-154379237-C-G
gnomAD v4:
X-154379237-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154379237C>G , CM000685.2:g.154379237C>G | GRCh38 |
| NC_000023.10:g.153607597C>G , CM000685.1:g.153607597C>G | GRCh37 |
| NC_000023.9:g.153260791C>G | NCBI36 |
| NG_008677.1:g.9802C>G , LRG_745:g.9802C>G | |
| NG_011506.1:g.410G>C | |
| NG_011506.2:g.402G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369842.8:c.-248C>G | ENSP00000358857.4:n.-248C>G | |
| NM_000117.2:c.-248C>G , LRG_745t1:c.-248C>G | NP_000108.1:n.-248C>G | |
| XM_024452349.1:c.-456C>G | XP_024308117.1:n.-456C>G |