Revel Score:
ENST00000343526 (MANE Select)
0.115
ENST00000452999
0.115
ENST00000536822
0.115
ENST00000415680
0.115
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00487916 (NFE)
Genomes Max Group AF
0.0043085 (AMR)
Exomes Max Group AF
0.00492036 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.138584825G>T , CM000669.2:g.138584825G>T | GRCh38 |
| NC_000007.13:g.138269570G>T , CM000669.1:g.138269570G>T | GRCh37 |
| NC_000007.12:g.137920110G>T | NCBI36 |
| NG_023286.1:g.129492G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343526.9:c.3027G>T MANE Select | ENSP00000340507.4:p.Arg1009Ser | |
| ENST00000343526.8:c.3027G>T | ENSP00000340507.4:p.Arg1009Ser | |
| ENST00000415680.6:c.2925G>T | ENSP00000390829.2:p.Arg975Ser | |
| ENST00000620194.1:c.2913G>T | ENSP00000484482.1:p.Arg971Ser | |
| NM_003852.3:c.2925G>T | NP_003843.3:p.Arg975Ser | |
| NM_015905.2:c.3027G>T | NP_056989.2:p.Arg1009Ser | |
| XM_024446981.1:c.2970G>T | XP_024302749.1:p.Arg990Ser | |
| NM_015905.3:c.3027G>T MANE Select | NP_056989.2:p.Arg1009Ser | |
| NM_003852.4:c.2925G>T | NP_003843.3:p.Arg975Ser |