Linked Data
dbSNP Id:
rs374637881
ExAC:
X:154133302 T / G
gnomAD v2:
X-154133302-T-G
gnomAD v4:
X-154905027-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154905027T>G , CM000685.2:g.154905027T>G | GRCh38 |
| NC_000023.10:g.154133302T>G , CM000685.1:g.154133302T>G | GRCh37 |
| NC_000023.9:g.153786496T>G | NCBI36 |
| NG_011403.1:g.122697A>C | |
| NG_011403.2:g.122697A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.5374-4A>C MANE Select | ENSP00000353393.4:n.5374-4A>C | |
| ENST00000360256.8:c.5374-4A>C | ENSP00000353393.4:n.5374-4A>C | |
| NM_000132.3:c.5374-4A>C | NP_000123.1:n.5374-4A>C | |
| XM_011531126.1:c.5269-4A>C | XP_011529428.1:n.5269-4A>C | |
| NM_000132.4:c.5374-4A>C MANE Select | NP_000123.1:n.5374-4A>C |