Revel Score:
ENST00000299167
0.773
ENST00000455779
0.773
ENST00000323584 (MANE Select)
0.773
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01121446 (NFE)
Genomes Max Group AF
0.01231725 (NFE)
Exomes Max Group AF
0.01109908 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.47515562G>T , CM000678.2:g.47515562G>T | GRCh38 |
| NC_000016.9:g.47549473G>T , CM000678.1:g.47549473G>T | GRCh37 |
| NC_000016.8:g.46106974G>T | NCBI36 |
| NG_016598.1:g.59264G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696809.1:c.534G>T | ENSP00000512887.1:p.Met178Ile | |
| ENST00000699276.1:c.534G>T | ENSP00000514257.1:p.Met178Ile | |
| ENST00000323584.10:c.555G>T MANE Select | ENSP00000313504.5:p.Met185Ile | |
| ENST00000299167.12:c.555G>T | ENSP00000299167.8:p.Met185Ile | |
| ENST00000323584.9:c.555G>T | ENSP00000313504.5:p.Met185Ile | |
| ENST00000565424.2:n.97-31871G>T | ||
| ENST00000566037.6:c.534G>T | ENSP00000455664.2:p.Met178Ile | |
| ENST00000566044.5:c.534G>T | ENSP00000456729.1:p.Met178Ile | |
| ENST00000567402.5:n.570G>T | ||
| ENST00000570047.2:c.389G>T | ||
| NM_000293.2:c.555G>T | NP_000284.1:p.Met185Ile | |
| NM_001031835.2:c.534G>T | NP_001027005.1:p.Met178Ile | |
| XM_005255983.3:c.555G>T | XP_005256040.1:p.Met185Ile | |
| XM_005255984.3:c.534G>T | XP_005256041.1:p.Met178Ile | |
| XM_011523106.1:c.555G>T | XP_011521408.1:p.Met185Ile | |
| NM_001363837.1:c.555G>T | NP_001350766.1:p.Met185Ile | |
| XM_005255983.4:c.555G>T | XP_005256040.1:p.Met185Ile | |
| XM_005255984.4:c.534G>T | XP_005256041.1:p.Met178Ile | |
| XM_017023283.1:c.-951G>T | XP_016878772.1:n.-951G>T | |
| XM_017023284.1:c.-951G>T | XP_016878773.1:n.-951G>T | |
| XR_001751913.1:n.570G>T | ||
| NM_000293.3:c.555G>T MANE Select | NP_000284.1:p.Met185Ile | |
| NM_001031835.3:c.534G>T | NP_001027005.1:p.Met178Ile |