Revel Score:
ENST00000393959 (MANE Select)
0.949
ENST00000274547
0.949
ENST00000353437
0.949
ENST00000520240
0.949
ENST00000517901
0.949
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.161545228A>G , CM000667.2:g.161545228A>G | GRCh38 |
| NC_000005.9:g.160972234A>G , CM000667.1:g.160972234A>G | GRCh37 |
| NC_000005.8:g.160904812A>G | NCBI36 |
| NG_047050.1:g.7897T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274547.7:c.236T>C | ENSP00000274547.2:p.Met79Thr | |
| ENST00000393959.6:c.236T>C MANE Select | ENSP00000377531.1:p.Met79Thr | |
| ENST00000674514.1:n.318T>C | ||
| ENST00000674988.1:n.110T>C | ||
| ENST00000675245.1:n.300T>C | ||
| ENST00000675303.1:c.236T>C | ENSP00000502748.1:p.Met79Thr | |
| ENST00000675682.1:n.389T>C | ||
| ENST00000675773.1:c.236T>C | ENSP00000502701.1:p.Met79Thr | |
| ENST00000274547.6:c.236T>C | ENSP00000274547.2:p.Met79Thr | |
| ENST00000353437.10:c.236T>C | ENSP00000274546.6:p.Met79Thr | |
| ENST00000393959.5:c.236T>C | ENSP00000377531.1:p.Met79Thr | |
| ENST00000517547.5:c.-24T>C | ENSP00000429750.1:n.-24T>C | |
| ENST00000517901.5:c.47T>C | ENSP00000430532.1:p.Met16Thr | |
| ENST00000520240.5:c.236T>C | ENSP00000429320.1:p.Met79Thr | |
| ENST00000522758.1:n.318T>C | ||
| ENST00000612710.1:c.47T>C | ENSP00000480066.1:p.Met16Thr | |
| NM_000813.2:c.236T>C | NP_000804.1:p.Met79Thr | |
| NM_021911.2:c.236T>C | NP_068711.1:p.Met79Thr | |
| NM_000813.3:c.236T>C | NP_000804.1:p.Met79Thr | |
| NM_001371727.1:c.236T>C MANE Select | NP_001358656.1:p.Met79Thr | |
| NM_021911.3:c.236T>C | NP_068711.1:p.Met79Thr |