Revel Score:
ENST00000343526 (MANE Select)
0.118
ENST00000452999
0.118
ENST00000536822
0.118
ENST00000415680
0.118
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.138584825G>C , CM000669.2:g.138584825G>C | GRCh38 |
| NC_000007.13:g.138269570G>C , CM000669.1:g.138269570G>C | GRCh37 |
| NC_000007.12:g.137920110G>C | NCBI36 |
| NG_023286.1:g.129492G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343526.9:c.3027G>C MANE Select | ENSP00000340507.4:p.Arg1009Ser | |
| ENST00000343526.8:c.3027G>C | ENSP00000340507.4:p.Arg1009Ser | |
| ENST00000415680.6:c.2925G>C | ENSP00000390829.2:p.Arg975Ser | |
| ENST00000620194.1:c.2913G>C | ENSP00000484482.1:p.Arg971Ser | |
| NM_003852.3:c.2925G>C | NP_003843.3:p.Arg975Ser | |
| NM_015905.2:c.3027G>C | NP_056989.2:p.Arg1009Ser | |
| XM_024446981.1:c.2970G>C | XP_024302749.1:p.Arg990Ser | |
| NM_015905.3:c.3027G>C MANE Select | NP_056989.2:p.Arg1009Ser | |
| NM_003852.4:c.2925G>C | NP_003843.3:p.Arg975Ser |