Linked Data
ClinVar Variation Id:
319647
ClinVar RCV Id:
RCV000284914
RCV000321256
RCV000385189
RCV002504091
RCV000820913
RCV001276306
RCV003278765
dbSNP Id:
rs377402117
ExAC:
16:53636097 A / G
gnomAD v2:
16-53636097-A-G
gnomAD v3:
16-53602185-A-G
gnomAD v4:
16-53602185-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.53602185A>G , CM000678.2:g.53602185A>G | GRCh38 |
| NC_000016.9:g.53636097A>G , CM000678.1:g.53636097A>G | GRCh37 |
| NC_000016.8:g.52193598A>G | NCBI36 |
| NG_008991.2:g.106675T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262135.9:c.3599T>C | ENSP00000262135.4:p.Phe1200Ser | |
| ENST00000565343.2:n.4263T>C | ||
| ENST00000621565.5:c.3701T>C | ENSP00000480698.1:p.Phe1234Ser | |
| ENST00000647211.2:c.3839T>C MANE Select | ENSP00000493946.1:p.Phe1280Ser | |
| ENST00000680193.1:c.*599T>C | ENSP00000506379.1:n.*599T>C | |
| ENST00000681587.1:n.1611T>C | ||
| ENST00000262135.8:c.3599T>C | ENSP00000262135.4:p.Phe1200Ser | |
| ENST00000379925.7:c.3839T>C | ENSP00000369257.3:p.Phe1280Ser | |
| ENST00000563746.5:c.3737T>C | ENSP00000457889.1:p.Phe1246Ser | |
| ENST00000621565.4:c.3701T>C | ENSP00000480698.1:p.Phe1234Ser | |
| NM_001127897.1:c.3599T>C | NP_001121369.1:p.Phe1200Ser | |
| NM_001127897.2:c.3599T>C | NP_001121369.1:p.Phe1200Ser | |
| NM_001308334.1:c.3701T>C | NP_001295263.1:p.Phe1234Ser | |
| NM_015272.2:c.3839T>C | NP_056087.2:p.Phe1280Ser | |
| NM_015272.3:c.3839T>C | NP_056087.2:p.Phe1280Ser | |
| XM_005255867.1:c.3737T>C | XP_005255924.1:p.Phe1246Ser | |
| XM_005255868.1:c.3713T>C | XP_005255925.1:p.Phe1238Ser | |
| XM_005255871.2:c.1946T>C | XP_005255928.1:p.Phe649Ser | |
| XM_011522968.1:c.3839T>C | XP_011521270.1:p.Phe1280Ser | |
| XM_011522974.1:c.1946T>C | XP_011521276.1:p.Phe649Ser | |
| NM_001127897.3:c.3599T>C | NP_001121369.1:p.Phe1200Ser | |
| NM_001308334.2:c.3701T>C | NP_001295263.1:p.Phe1234Ser | |
| NM_001330538.1:c.3737T>C | NP_001317467.1:p.Phe1246Ser | |
| NM_015272.4:c.3839T>C | NP_056087.2:p.Phe1280Ser | |
| XM_005255868.2:c.3713T>C | XP_005255925.1:p.Phe1238Ser | |
| XM_017023094.2:c.3851T>C | XP_016878583.1:p.Phe1284Ser | |
| XM_017023095.2:c.3611T>C | XP_016878584.1:p.Phe1204Ser | |
| XM_017023098.1:c.2084T>C | XP_016878587.1:p.Phe695Ser | |
| XM_017023099.1:c.2084T>C | XP_016878588.1:p.Phe695Ser | |
| NM_015272.5:c.3839T>C MANE Select | NP_056087.2:p.Phe1280Ser | |
| NM_001127897.4:c.3599T>C | NP_001121369.1:p.Phe1200Ser | |
| NM_001330538.2:c.3737T>C | NP_001317467.1:p.Phe1246Ser | |
| NM_001308334.3:c.3701T>C | NP_001295263.1:p.Phe1234Ser |