Revel Score:
ENST00000264595 (MANE Select)
0.965
ENST00000502310
0.965
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.177434418G>A , CM000666.2:g.177434418G>A | GRCh38 |
| NC_000004.11:g.178355572G>A , CM000666.1:g.178355572G>A | GRCh37 |
| NC_000004.10:g.178592566G>A | NCBI36 |
| NG_011845.2:g.13086C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264595.7:c.770C>T MANE Select | ENSP00000264595.2:p.Thr257Ile | |
| ENST00000264595.6:c.770C>T | ENSP00000264595.2:p.Thr257Ile | |
| ENST00000502310.5:c.341C>T | ENSP00000423798.1:p.Thr114Ile | |
| ENST00000506853.5:n.728C>T | ||
| NM_000027.3:c.770C>T | NP_000018.2:p.Thr257Ile | |
| NM_001171988.1:c.740C>T | NP_001165459.1:p.Thr247Ile | |
| NR_033655.1:n.822C>T | ||
| XM_006714123.2:c.*64C>T | XP_006714186.1:n.*64C>T | |
| XR_001741155.2:n.842C>T | ||
| NM_000027.4:c.770C>T MANE Select | NP_000018.2:p.Thr257Ile | |
| NM_001171988.2:c.740C>T | NP_001165459.1:p.Thr247Ile | |
| NR_033655.2:n.756C>T |