Linked Data
dbSNP Id:
rs750143159
ExAC:
X:73641750 A / T
gnomAD v2:
X-73641750-A-T
gnomAD v4:
X-74421915-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.74421915A>T , CM000685.2:g.74421915A>T | GRCh38 |
| NC_000023.10:g.73641750A>T , CM000685.1:g.73641750A>T | GRCh37 |
| NC_000023.9:g.73558475A>T | NCBI36 |
| NG_011641.1:g.5666A>T | |
| NG_011641.2:g.5666A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000587091.6:c.278A>T MANE Select | ENSP00000465734.1:p.Gln93Leu | |
| ENST00000636771.1:c.24A>T | ||
| ENST00000587091.5:c.278A>T | ENSP00000465734.1:p.Gln93Leu | |
| NM_006517.4:c.278A>T | NP_006508.2:p.Gln93Leu | |
| XM_005262294.1:c.278A>T | XP_005262351.1:p.Gln93Leu | |
| XM_011531015.1:c.278A>T | XP_011529317.1:p.Gln93Leu | |
| NM_006517.5:c.278A>T MANE Select | NP_006508.2:p.Gln93Leu |