Revel Score:
ENST00000553106 (MANE Select)
0.753
ENST00000307000
0.753
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102840402T>G , CM000674.2:g.102840402T>G | GRCh38 |
| NC_000012.11:g.103234180T>G , CM000674.1:g.103234180T>G | GRCh37 |
| NC_000012.10:g.101758310T>G | NCBI36 |
| NG_008690.1:g.82201A>C | |
| NG_008690.2:g.123009A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.1313A>C MANE Select | ENSP00000448059.1:p.Asn438Thr | |
| ENST00000307000.7:c.1298A>C | ENSP00000303500.2:p.Asn433Thr | |
| ENST00000551114.2:n.975A>C | ||
| ENST00000553106.5:c.1313A>C | ENSP00000448059.1:p.Asn438Thr | |
| ENST00000635477.1:c.417A>C | ||
| ENST00000635528.1:n.828A>C | ||
| NM_000277.1:c.1313A>C | NP_000268.1:p.Asn438Thr | |
| XM_011538422.1:c.1256A>C | XP_011536724.1:p.Asn419Thr | |
| NM_000277.2:c.1313A>C | NP_000268.1:p.Asn438Thr | |
| NM_001354304.1:c.1313A>C | NP_001341233.1:p.Asn438Thr | |
| NM_000277.3:c.1313A>C MANE Select | NP_000268.1:p.Asn438Thr | |
| NM_001354304.2:c.1313A>C | NP_001341233.1:p.Asn438Thr |