Linked Data
dbSNP Id:
rs760271601
ExAC:
X:70519821 G / A
gnomAD v2:
X-70519821-G-A
gnomAD v4:
X-71299971-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.71299971G>A , CM000685.2:g.71299971G>A | GRCh38 |
| NC_000023.10:g.70519821G>A , CM000685.1:g.70519821G>A | GRCh37 |
| NC_000023.9:g.70436546G>A | NCBI36 |
| NG_046742.1:g.21780G>A | |
| NG_054891.1:g.3697G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276079.13:c.1311G>A MANE Select | ENSP00000276079.8:p.Gln437= | |
| ENST00000373856.8:c.1409G>A | ENSP00000362963.4:p.Arg470Lys | |
| ENST00000420903.6:c.1311G>A | ENSP00000410299.2:p.Gln437= | |
| ENST00000450092.6:c.1311G>A | ENSP00000415777.2:p.Gln437= | |
| ENST00000454976.2:c.1311G>A | ENSP00000406673.2:p.Gln437= | |
| ENST00000473525.2:n.2019G>A | ||
| ENST00000676495.1:n.2722G>A | ||
| ENST00000676499.1:n.2267G>A | ||
| ENST00000676797.1:c.1044G>A | ENSP00000503920.1:p.Gln348= | |
| ENST00000677014.1:c.*1138G>A | ENSP00000503813.1:n.*1138G>A | |
| ENST00000677218.1:n.2482G>A | ||
| ENST00000677245.1:c.*1520G>A | ENSP00000503929.1:n.*1520G>A | |
| ENST00000677274.1:c.1311G>A | ENSP00000504314.1:p.Gln437= | |
| ENST00000677446.1:c.1311G>A | ENSP00000503031.1:p.Gln437= | |
| ENST00000677612.1:c.1311G>A | ENSP00000504351.1:p.Gln437= | |
| ENST00000677766.1:n.3716G>A | ||
| ENST00000677826.1:n.2053G>A | ||
| ENST00000677879.1:c.1131G>A | ENSP00000504090.1:p.Gln377= | |
| ENST00000677977.1:n.3143G>A | ||
| ENST00000678231.1:c.1311G>A | ENSP00000503233.1:p.Gln437= | |
| ENST00000678323.1:n.2409G>A | ||
| ENST00000678335.1:c.*224G>A | ENSP00000503769.1:n.*224G>A | |
| ENST00000678437.1:c.1302G>A | ENSP00000504007.1:p.Gln434= | |
| ENST00000678660.1:c.1326G>A | ENSP00000504665.1:p.Gln442= | |
| ENST00000678830.1:c.1401G>A | ENSP00000504263.1:p.Gln467= | |
| ENST00000679029.1:c.*125G>A | ENSP00000504193.1:n.*125G>A | |
| ENST00000679267.1:n.3518G>A | ||
| ENST00000276079.12:c.1311G>A | ENSP00000276079.8:p.Gln437= | |
| ENST00000373841.5:c.1311G>A | ENSP00000362947.1:p.Gln437= | |
| ENST00000373856.7:c.1311G>A | ENSP00000362963.3:p.Gln437= | |
| ENST00000472185.1:n.61-548G>A | ||
| ENST00000473525.1:n.1085G>A | ||
| ENST00000474431.5:n.346G>A | ||
| ENST00000490044.5:n.2018G>A | ||
| ENST00000535149.5:c.1044G>A | ENSP00000441364.1:p.Gln348= | |
| NM_001145408.1:c.1311G>A | NP_001138880.1:p.Gln437= | |
| NM_001145409.1:c.1311G>A | NP_001138881.1:p.Gln437= | |
| NM_001145410.1:c.1044G>A | NP_001138882.1:p.Gln348= | |
| NM_007363.4:c.1311G>A | NP_031389.3:p.Gln437= | |
| NM_007363.5:c.1311G>A MANE Select | NP_031389.3:p.Gln437= | |
| NM_001145408.2:c.1311G>A | NP_001138880.1:p.Gln437= | |
| NM_001145409.2:c.1311G>A | NP_001138881.1:p.Gln437= | |
| NM_001145410.2:c.1044G>A | NP_001138882.1:p.Gln348= |