Revel Score:
ENST00000392770
0.627
ENST00000299333 (MANE Select)
0.627
ENST00000530277
0.627
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.123638288A>G , CM000673.2:g.123638288A>G | GRCh38 |
| NC_000011.9:g.123508996A>G , CM000673.1:g.123508996A>G | GRCh37 |
| NC_000011.8:g.123014206A>G | NCBI36 |
| NG_016283.1:g.21320T>C , LRG_421:g.21320T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299333.8:c.482T>C MANE Select | ENSP00000299333.3:p.Met161Thr | |
| ENST00000655686.1:n.325T>C | ||
| ENST00000657123.1:c.482T>C | ENSP00000499439.1:p.Met161Thr | |
| ENST00000657191.1:c.482T>C | ENSP00000499755.1:p.Met161Thr | |
| ENST00000659826.1:c.231T>C | ||
| ENST00000667790.1:c.*463T>C | ENSP00000499234.1:n.*463T>C | |
| ENST00000299333.7:c.482T>C | ENSP00000299333.3:p.Met161Thr | |
| ENST00000392770.6:c.482T>C | ENSP00000376523.2:p.Met161Thr | |
| ENST00000527125.1:n.2837T>C | ||
| ENST00000530277.5:c.482T>C | ENSP00000432785.1:p.Met161Thr | |
| NM_001040151.1:c.482T>C | NP_001035241.1:p.Met161Thr | |
| NM_018400.3:c.482T>C , LRG_421t1:c.482T>C | NP_060870.1:p.Met161Thr | |
| XM_011542897.1:c.482T>C | XP_011541199.1:p.Met161Thr | |
| XR_947858.1:n.889T>C | ||
| XM_011542897.2:c.482T>C | XP_011541199.1:p.Met161Thr | |
| NM_001040151.2:c.482T>C MANE Select | NP_001035241.1:p.Met161Thr | |
| NM_018400.4:c.482T>C | NP_060870.1:p.Met161Thr |