MyVariant.info:
GRCh37
chrX:g.132887551A>G
Revel Score:
ENST00000406757
0.036
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.133753524A>G , CM000685.2:g.133753524A>G | GRCh38 |
| NC_000023.10:g.132887551A>G , CM000685.1:g.132887551A>G | GRCh37 |
| NC_000023.9:g.132715217A>G | NCBI36 |
| NG_009286.1:g.237116T>C , LRG_505:g.237116T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000406757.3:c.179T>C | ||
| ENST00000684880.1:c.*578T>C | ENSP00000510280.1:n.*578T>C | |
| ENST00000689310.1:c.942T>C | ENSP00000510438.1:p.Ser314= | |
| ENST00000692084.1:c.184T>C | ||
| ENST00000370818.8:c.990T>C MANE Select | ENSP00000359854.3:p.Ser330= | |
| ENST00000394299.7:c.990T>C | ENSP00000377836.2:p.Ser330= | |
| ENST00000666673.1:n.184T>C | ||
| ENST00000370818.7:c.990T>C | ENSP00000359854.3:p.Ser330= | |
| ENST00000394299.6:c.990T>C | ENSP00000377836.2:p.Ser330= | |
| ENST00000406757.2:c.179T>C | ||
| ENST00000631057.2:c.828T>C | ENSP00000486325.1:p.Ser276= | |
| NM_001164617.1:c.990T>C | NP_001158089.1:p.Ser330= | |
| NM_001164618.1:c.942T>C | NP_001158090.1:p.Ser314= | |
| NM_001164619.1:c.828T>C | NP_001158091.1:p.Ser276= | |
| NM_004484.3:c.990T>C , LRG_505t1:c.990T>C | NP_004475.1:p.Ser330= | |
| XM_017029413.2:c.990T>C | XP_016884902.1:p.Ser330= | |
| NM_001164617.2:c.990T>C | NP_001158089.1:p.Ser330= | |
| NM_001164618.2:c.942T>C | NP_001158090.1:p.Ser314= | |
| NM_001164619.2:c.828T>C | NP_001158091.1:p.Ser276= | |
| NM_004484.4:c.990T>C MANE Select | NP_004475.1:p.Ser330= |