Linked Data
ClinVar Variation Id:
3016792
ClinVar RCV Id:
RCV003878927
dbSNP Id:
rs894024346
gnomAD v4:
11-14879122-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.14879122A>G , CM000673.2:g.14879122A>G | GRCh38 |
| NC_000011.9:g.14900668A>G , CM000673.1:g.14900668A>G | GRCh37 |
| NC_000011.8:g.14857244A>G | NCBI36 |
| NG_007936.1:g.18084T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334636.10:c.1322T>C MANE Select | ENSP00000334592.5:p.Phe441Ser | |
| ENST00000334636.9:c.1322T>C | ENSP00000334592.5:p.Phe441Ser | |
| ENST00000525015.1:c.152T>C | ||
| ENST00000530609.5:c.*918T>C | ENSP00000466060.1:n.*918T>C | |
| ENST00000532378.5:c.623T>C | ENSP00000435484.1:p.Phe208Ser | |
| ENST00000532805.1:c.*430T>C | ENSP00000465097.1:n.*430T>C | |
| ENST00000534686.5:c.*682T>C | ENSP00000432087.2:n.*682T>C | |
| NM_024514.4:c.1322T>C | NP_078790.2:p.Phe441Ser | |
| XM_005252788.1:c.1178T>C | XP_005252845.1:p.Phe393Ser | |
| XM_005252789.2:c.1160T>C | XP_005252846.1:p.Phe387Ser | |
| XM_005252791.3:c.977T>C | XP_005252848.1:p.Phe326Ser | |
| XM_006718142.2:c.1277T>C | XP_006718205.1:p.Phe426Ser | |
| XM_011519894.1:c.977T>C | XP_011518196.1:p.Phe326Ser | |
| XM_011519895.1:c.977T>C | XP_011518197.1:p.Phe326Ser | |
| XM_011519896.1:c.977T>C | XP_011518198.1:p.Phe326Ser | |
| XM_011519897.1:c.977T>C | XP_011518199.1:p.Phe326Ser | |
| XM_011519898.1:c.977T>C | XP_011518200.1:p.Phe326Ser | |
| XR_242777.2:n.1139T>C | ||
| XM_005252788.2:c.1178T>C | XP_005252845.1:p.Phe393Ser | |
| XM_005252789.3:c.1160T>C | XP_005252846.1:p.Phe387Ser | |
| XM_011519895.2:c.977T>C | XP_011518197.1:p.Phe326Ser | |
| XM_011519898.3:c.977T>C | XP_011518200.1:p.Phe326Ser | |
| XM_017017190.2:c.1157T>C | XP_016872679.1:p.Phe386Ser | |
| XM_017017191.2:c.977T>C | XP_016872680.1:p.Phe326Ser | |
| XM_017017192.2:c.977T>C | XP_016872681.1:p.Phe326Ser | |
| XM_017017193.2:c.977T>C | XP_016872682.1:p.Phe326Ser | |
| XM_017017194.2:c.977T>C | XP_016872683.1:p.Phe326Ser | |
| XM_024448345.1:c.1157T>C | XP_024304113.1:p.Phe386Ser | |
| XM_024448346.1:c.977T>C | XP_024304114.1:p.Phe326Ser | |
| XM_024448347.1:c.977T>C | XP_024304115.1:p.Phe326Ser | |
| XM_024448348.1:c.977T>C | XP_024304116.1:p.Phe326Ser | |
| XR_002957123.1:n.1102T>C | ||
| XR_002957124.1:n.1368T>C | ||
| XR_242777.3:n.1139T>C | ||
| NM_001377214.1:c.977T>C | NP_001364143.1:p.Phe326Ser | |
| NM_001377215.1:c.977T>C | NP_001364144.1:p.Phe326Ser | |
| NM_001377216.1:c.977T>C | NP_001364145.1:p.Phe326Ser | |
| NM_001377217.1:c.1160T>C | NP_001364146.1:p.Phe387Ser | |
| NM_001377227.1:c.977T>C | NP_001364156.1:p.Phe326Ser | |
| NM_024514.5:c.1322T>C MANE Select | NP_078790.2:p.Phe441Ser | |
| NM_001400558.1:c.977T>C | NP_001387487.1:p.Phe326Ser | |
| NM_001400559.1:c.977T>C | NP_001387488.1:p.Phe326Ser | |
| NM_001400560.1:c.977T>C | NP_001387489.1:p.Phe326Ser | |
| NM_001400561.1:c.977T>C | NP_001387490.1:p.Phe326Ser | |
| NM_001400562.1:c.623T>C | NP_001387491.1:p.Phe208Ser | |
| NM_001400563.1:c.623T>C | NP_001387492.1:p.Phe208Ser | |
| NM_001400564.1:c.623T>C | NP_001387493.1:p.Phe208Ser | |
| NM_001400565.1:c.623T>C | NP_001387494.1:p.Phe208Ser | |
| NM_001400566.1:c.344T>C | NP_001387495.1:p.Phe115Ser | |
| NM_001400567.1:c.1178T>C | NP_001387496.1:p.Phe393Ser | |
| NM_001400568.1:c.1277T>C | NP_001387497.1:p.Phe426Ser | |
| NR_174512.1:n.1189T>C | ||
| NR_174513.1:n.1038T>C | ||
| NR_174514.1:n.1413T>C | ||
| NR_174515.1:n.1822T>C | ||
| NR_174516.1:n.1000T>C | ||
| NR_174517.1:n.536T>C | ||
| NR_174518.1:n.1633T>C | ||
| NR_174519.1:n.1380T>C | ||
| NR_174520.1:n.1171T>C | ||
| NR_174521.1:n.1671T>C | ||
| NR_174522.1:n.1169T>C | ||
| NR_174523.1:n.1580T>C |