Revel Score:
ENST00000398860
0.653
ENST00000398855
0.653
ENST00000224721 (MANE Select)
0.653
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71785051T>C , CM000672.2:g.71785051T>C | GRCh38 |
| NC_000010.10:g.73544808T>C , CM000672.1:g.73544808T>C | GRCh37 |
| NC_000010.9:g.73214814T>C | NCBI36 |
| NG_008835.1:g.393105T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.5663T>C MANE Select | ENSP00000224721.9:p.Phe1888Ser | |
| ENST00000224721.10:c.5678T>C | ENSP00000224721.8:p.Phe1893Ser | |
| ENST00000622827.4:c.5663T>C | ENSP00000483211.1:p.Phe1888Ser | |
| NM_022124.5:c.5663T>C | NP_071407.4:p.Phe1888Ser | |
| XM_006717940.2:c.5858T>C | XP_006718003.1:p.Phe1953Ser | |
| XM_006717942.2:c.5792T>C | XP_006718005.1:p.Phe1931Ser | |
| XM_011540039.1:c.5855T>C | XP_011538341.1:p.Phe1952Ser | |
| XM_011540040.1:c.5852T>C | XP_011538342.1:p.Phe1951Ser | |
| XM_011540041.1:c.5798T>C | XP_011538343.1:p.Phe1933Ser | |
| XM_011540042.1:c.5858T>C | XP_011538344.1:p.Phe1953Ser | |
| XM_011540043.1:c.5858T>C | XP_011538345.1:p.Phe1953Ser | |
| XM_011540044.1:c.5723T>C | XP_011538346.1:p.Phe1908Ser | |
| XM_011540045.1:c.5858T>C | XP_011538347.1:p.Phe1953Ser | |
| XM_011540046.1:c.5318T>C | XP_011538348.1:p.Phe1773Ser | |
| XM_011540047.1:c.4676T>C | XP_011538349.1:p.Phe1559Ser | |
| XM_011540048.1:c.5858T>C | XP_011538350.1:p.Phe1953Ser | |
| XM_011540049.1:c.5858T>C | XP_011538351.1:p.Phe1953Ser | |
| XM_011540050.1:c.5858T>C | XP_011538352.1:p.Phe1953Ser | |
| XM_011540051.1:c.5858T>C | XP_011538353.1:p.Phe1953Ser | |
| XM_011540052.1:c.2186T>C | XP_011538354.1:p.Phe729Ser | |
| XM_011540053.1:c.5858T>C | XP_011538355.1:p.Phe1953Ser | |
| XR_945796.1:n.6101T>C | ||
| NM_022124.6:c.5663T>C MANE Select | NP_071407.4:p.Phe1888Ser |