Revel Score:
ENST00000369577 (MANE Select)
0.208
ENST00000339907
0.208
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.87255220T>G , CM000668.2:g.87255220T>G | GRCh38 |
| NC_000006.11:g.87964938T>G , CM000668.1:g.87964938T>G | GRCh37 |
| NC_000006.10:g.88021657T>G | NCBI36 |
| NG_054887.1:g.104670T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000466062.3:c.1633T>G | ||
| ENST00000699914.1:c.1591T>G | ENSP00000514683.1:p.Ser531Ala | |
| ENST00000699925.1:c.*1538T>G | ENSP00000514691.1:n.*1538T>G | |
| ENST00000699989.1:n.5051T>G | ||
| ENST00000699991.1:c.809T>G | ||
| ENST00000369577.8:c.1591T>G MANE Select | ENSP00000358590.3:p.Ser531Ala | |
| ENST00000339907.8:c.1576T>G | ENSP00000342847.4:p.Ser526Ala | |
| ENST00000369577.7:c.1591T>G | ENSP00000358590.3:p.Ser531Ala | |
| ENST00000496806.2:c.200-4855T>G | ENSP00000428857.1:n.200-4855T>G | |
| NM_015021.1:c.1591T>G | NP_055836.1:p.Ser531Ala | |
| XM_005248697.3:c.1171T>G | XP_005248754.1:p.Ser391Ala | |
| XM_005248698.3:c.817T>G | XP_005248755.1:p.Ser273Ala | |
| XM_011535625.1:c.625T>G | XP_011533927.1:p.Ser209Ala | |
| NM_001351444.1:c.1171T>G | NP_001338373.1:p.Ser391Ala | |
| NM_015021.2:c.1591T>G | NP_055836.1:p.Ser531Ala | |
| XM_005248697.4:c.1171T>G | XP_005248754.1:p.Ser391Ala | |
| XM_011535625.2:c.625T>G | XP_011533927.1:p.Ser209Ala | |
| XM_017010576.1:c.1171T>G | XP_016866065.1:p.Ser391Ala | |
| XM_017010577.1:c.1171T>G | XP_016866066.1:p.Ser391Ala | |
| XM_017010578.2:c.1171T>G | XP_016866067.1:p.Ser391Ala | |
| XM_017010579.1:c.1171T>G | XP_016866068.1:p.Ser391Ala | |
| XM_017010580.1:c.1171T>G | XP_016866069.1:p.Ser391Ala | |
| XM_017010582.1:c.1171T>G | XP_016866071.1:p.Ser391Ala | |
| XM_017010583.1:c.1171T>G | XP_016866072.1:p.Ser391Ala | |
| XM_017010584.2:c.1171T>G | XP_016866073.1:p.Ser391Ala | |
| NM_015021.3:c.1591T>G MANE Select | NP_055836.1:p.Ser531Ala | |
| NM_001351444.2:c.1171T>G | NP_001338373.1:p.Ser391Ala |