Revel Score:
ENST00000395869
0.869
ENST00000292327 (MANE Select)
0.869
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.46858425A>G , CM000665.2:g.46858425A>G | GRCh38 |
| NC_000003.11:g.46899915A>G , CM000665.1:g.46899915A>G | GRCh37 |
| NC_000003.10:g.46874919A>G | NCBI36 |
| NG_007555.2:g.28745T>C , LRG_395:g.28745T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000431168.2:c.518T>C | ENSP00000393455.2:p.Met173Thr | |
| ENST00000292327.6:c.518T>C MANE Select | ENSP00000292327.4:p.Met173Thr | |
| ENST00000653454.1:c.518T>C | ENSP00000499624.1:p.Met173Thr | |
| ENST00000654597.1:c.518T>C | ENSP00000499406.1:p.Met173Thr | |
| ENST00000655244.1:n.725T>C | ||
| ENST00000662933.1:c.518T>C | ENSP00000499577.1:p.Met173Thr | |
| ENST00000664891.1:n.476T>C | ||
| ENST00000292327.4:c.518T>C | ENSP00000292327.4:p.Met173Thr | |
| ENST00000395869.5:c.518T>C | ENSP00000379210.1:p.Met173Thr | |
| NM_000258.2:c.518T>C , LRG_395t1:c.518T>C | NP_000249.1:p.Met173Thr | |
| NM_000258.3:c.518T>C MANE Select | NP_000249.1:p.Met173Thr |