Linked Data
dbSNP Id:
rs772883079
ExAC:
X:70519815 T / C
gnomAD v2:
X-70519815-T-C
gnomAD v3:
X-71299965-T-C
gnomAD v4:
X-71299965-T-C
COSMIC:
COSM4707523
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.71299965T>C , CM000685.2:g.71299965T>C | GRCh38 |
| NC_000023.10:g.70519815T>C , CM000685.1:g.70519815T>C | GRCh37 |
| NC_000023.9:g.70436540T>C | NCBI36 |
| NG_046742.1:g.21774T>C | |
| NG_054891.1:g.3691T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276079.13:c.1305T>C MANE Select | ENSP00000276079.8:p.Phe435= | |
| ENST00000373856.8:c.1403T>C | ENSP00000362963.4:p.Leu468Ser | |
| ENST00000420903.6:c.1305T>C | ENSP00000410299.2:p.Phe435= | |
| ENST00000450092.6:c.1305T>C | ENSP00000415777.2:p.Phe435= | |
| ENST00000454976.2:c.1305T>C | ENSP00000406673.2:p.Phe435= | |
| ENST00000473525.2:n.2013T>C | ||
| ENST00000676495.1:n.2716T>C | ||
| ENST00000676499.1:n.2261T>C | ||
| ENST00000676797.1:c.1038T>C | ENSP00000503920.1:p.Phe346= | |
| ENST00000677014.1:c.*1132T>C | ENSP00000503813.1:n.*1132T>C | |
| ENST00000677218.1:n.2476T>C | ||
| ENST00000677245.1:c.*1514T>C | ENSP00000503929.1:n.*1514T>C | |
| ENST00000677274.1:c.1305T>C | ENSP00000504314.1:p.Phe435= | |
| ENST00000677446.1:c.1305T>C | ENSP00000503031.1:p.Phe435= | |
| ENST00000677612.1:c.1305T>C | ENSP00000504351.1:p.Phe435= | |
| ENST00000677766.1:n.3710T>C | ||
| ENST00000677826.1:n.2047T>C | ||
| ENST00000677879.1:c.1125T>C | ENSP00000504090.1:p.Phe375= | |
| ENST00000677977.1:n.3137T>C | ||
| ENST00000678231.1:c.1305T>C | ENSP00000503233.1:p.Phe435= | |
| ENST00000678323.1:n.2403T>C | ||
| ENST00000678335.1:c.*218T>C | ENSP00000503769.1:n.*218T>C | |
| ENST00000678437.1:c.1296T>C | ENSP00000504007.1:p.Phe432= | |
| ENST00000678660.1:c.1320T>C | ENSP00000504665.1:p.Phe440= | |
| ENST00000678830.1:c.1395T>C | ENSP00000504263.1:p.Phe465= | |
| ENST00000679029.1:c.*119T>C | ENSP00000504193.1:n.*119T>C | |
| ENST00000679267.1:n.3512T>C | ||
| ENST00000276079.12:c.1305T>C | ENSP00000276079.8:p.Phe435= | |
| ENST00000373841.5:c.1305T>C | ENSP00000362947.1:p.Phe435= | |
| ENST00000373856.7:c.1305T>C | ENSP00000362963.3:p.Phe435= | |
| ENST00000472185.1:n.61-554T>C | ||
| ENST00000473525.1:n.1079T>C | ||
| ENST00000474431.5:n.340T>C | ||
| ENST00000490044.5:n.2012T>C | ||
| ENST00000535149.5:c.1038T>C | ENSP00000441364.1:p.Phe346= | |
| NM_001145408.1:c.1305T>C | NP_001138880.1:p.Phe435= | |
| NM_001145409.1:c.1305T>C | NP_001138881.1:p.Phe435= | |
| NM_001145410.1:c.1038T>C | NP_001138882.1:p.Phe346= | |
| NM_007363.4:c.1305T>C | NP_031389.3:p.Phe435= | |
| NM_007363.5:c.1305T>C MANE Select | NP_031389.3:p.Phe435= | |
| NM_001145408.2:c.1305T>C | NP_001138880.1:p.Phe435= | |
| NM_001145409.2:c.1305T>C | NP_001138881.1:p.Phe435= | |
| NM_001145410.2:c.1038T>C | NP_001138882.1:p.Phe346= |