Revel Score:
ENST00000338904
0.004
ENST00000554964 (MANE Select)
0.004
ENST00000555230
0.004
ENST00000557068
0.004
ENST00000404716
0.004
ENST00000556208
0.004
ENST00000553541
0.004
ENST00000429244
0.004
ENST00000553706
0.004
ENST00000557209
0.004
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.20556460A>C , CM000676.2:g.20556460A>C | GRCh38 |
| NC_000014.8:g.21024619A>C , CM000676.1:g.21024619A>C | GRCh37 |
| NC_000014.7:g.20094459A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000554964.6:c.607T>G MANE Select | ENSP00000450599.2:p.Ser203Ala | |
| ENST00000338904.7:c.610T>G | ENSP00000340162.3:p.Ser204Ala | |
| ENST00000404716.7:c.625T>G | ENSP00000384683.3:p.Ser209Ala | |
| ENST00000429244.6:c.610T>G | ENSP00000409504.2:p.Ser204Ala | |
| ENST00000553541.5:c.610T>G | ENSP00000451285.1:p.Ser204Ala | |
| ENST00000553706.5:c.625T>G | ENSP00000450570.1:p.Ser209Ala | |
| ENST00000554964.5:c.610T>G | ENSP00000450599.1:p.Ser204Ala | |
| ENST00000555230.5:c.610T>G | ENSP00000450800.1:p.Ser204Ala | |
| ENST00000556208.5:c.625T>G | ENSP00000451160.1:p.Ser209Ala | |
| ENST00000557068.5:c.610T>G | ENSP00000451565.1:p.Ser204Ala | |
| ENST00000557209.1:c.625T>G | ENSP00000450987.1:p.Ser209Ala | |
| ENST00000611135.1:c.625T>G | ENSP00000481786.1:p.Ser209Ala | |
| NM_001001673.3:c.610T>G | NP_001001673.2:p.Ser204Ala | |
| NM_001110356.1:c.610T>G | NP_001103826.1:p.Ser204Ala | |
| NM_001110357.1:c.610T>G | NP_001103827.1:p.Ser204Ala | |
| NM_001110358.1:c.625T>G | NP_001103828.1:p.Ser209Ala | |
| NM_001110359.1:c.625T>G | NP_001103829.1:p.Ser209Ala | |
| NM_001110360.1:c.625T>G | NP_001103830.1:p.Ser209Ala | |
| NM_001110361.1:c.625T>G | NP_001103831.1:p.Ser209Ala | |
| NM_001289110.1:c.610T>G | NP_001276039.1:p.Ser204Ala |