COSMIC:
COSM1235618 (not active)
COSM1235619 (not active)
Revel Score:
ENST00000262948 (MANE Select)
0.923
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4117553A>G , CM000681.2:g.4117553A>G | GRCh38 |
| NC_000019.9:g.4117551A>G , CM000681.1:g.4117551A>G | GRCh37 |
| NC_000019.8:g.4068551A>G | NCBI36 |
| NG_007996.1:g.11576T>C , LRG_750:g.11576T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394867.9:n.608T>C | ||
| ENST00000687128.1:n.608T>C | ||
| ENST00000262948.10:c.169T>C MANE Select | ENSP00000262948.4:p.Phe57Leu | |
| ENST00000262948.9:c.169T>C | ENSP00000262948.3:p.Phe57Leu | |
| ENST00000394867.8:c.-123T>C | ENSP00000378336.1:n.-123T>C | |
| ENST00000599345.1:n.366T>C | ||
| NM_030662.3:c.169T>C , LRG_750t1:c.169T>C | NP_109587.1:p.Phe57Leu | |
| XM_006722799.2:c.169T>C | XP_006722862.1:p.Phe57Leu | |
| XM_017026989.1:c.169T>C | XP_016882478.1:p.Phe57Leu | |
| XM_017026990.1:c.169T>C | XP_016882479.1:p.Phe57Leu | |
| XM_017026991.1:c.169T>C | XP_016882480.1:p.Phe57Leu | |
| NM_030662.4:c.169T>C MANE Select | NP_109587.1:p.Phe57Leu |