Revel Score:
ENST00000553106 (MANE Select)
0.674
ENST00000307000
0.674
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102843762C>G , CM000674.2:g.102843762C>G | GRCh38 |
| NC_000012.11:g.103237540C>G , CM000674.1:g.103237540C>G | GRCh37 |
| NC_000012.10:g.101761670C>G | NCBI36 |
| NG_008690.1:g.78841G>C | |
| NG_008690.2:g.119649G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.1083G>C MANE Select | ENSP00000448059.1:p.Lys361Asn | |
| ENST00000307000.7:c.1068G>C | ENSP00000303500.2:p.Lys356Asn | |
| ENST00000549247.6:n.842G>C | ||
| ENST00000551114.2:n.745G>C | ||
| ENST00000553106.5:c.1083G>C | ENSP00000448059.1:p.Lys361Asn | |
| ENST00000635477.1:c.187G>C | ||
| ENST00000635528.1:n.598G>C | ||
| NM_000277.1:c.1083G>C | NP_000268.1:p.Lys361Asn | |
| XM_011538422.1:c.1026G>C | XP_011536724.1:p.Lys342Asn | |
| NM_000277.2:c.1083G>C | NP_000268.1:p.Lys361Asn | |
| NM_001354304.1:c.1083G>C | NP_001341233.1:p.Lys361Asn | |
| NM_000277.3:c.1083G>C MANE Select | NP_000268.1:p.Lys361Asn | |
| NM_001354304.2:c.1083G>C | NP_001341233.1:p.Lys361Asn |