Revel Score:
ENST00000377162
0.176
ENST00000546057
0.229
ENST00000328963 (MANE Select)
0.229
ENST00000535250
0.229
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00108494 (SAS)
Genomes Max Group AF
0.00040793 (SAS)
Exomes Max Group AF
0.00109305 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121165437C>T , CM000674.2:g.121165437C>T | GRCh38 |
| NC_000012.11:g.121603240C>T , CM000674.1:g.121603240C>T | GRCh37 |
| NC_000012.10:g.120087623C>T | NCBI36 |
| NG_011471.2:g.37563C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328963.10:c.614C>T MANE Select | ENSP00000330696.6:p.Thr205Met | |
| ENST00000261826.10:c.*67C>T | ENSP00000261826.6:n.*67C>T | |
| ENST00000328963.9:c.614C>T | ENSP00000330696.6:p.Thr205Met | |
| ENST00000535250.5:c.614C>T | ENSP00000442572.2:p.Thr205Met | |
| ENST00000535600.2:c.614C>T | ENSP00000442470.1:p.Thr205Ile | |
| ENST00000537312.5:c.*301C>T | ENSP00000438586.1:n.*301C>T | |
| ENST00000538011.5:c.753C>T | ENSP00000439247.1:n.753C>T | |
| ENST00000539606.5:c.753C>T | ENSP00000445325.1:n.753C>T | |
| ENST00000539695.5:n.836C>T | ||
| ENST00000541022.5:c.541C>T | ENSP00000441230.1:n.541C>T | |
| ENST00000541564.5:c.614C>T | ENSP00000443640.1:p.Thr205Met | |
| ENST00000541716.5:c.541C>T | ENSP00000437729.1:n.541C>T | |
| ENST00000545434.5:c.*228C>T | ENSP00000445564.1:n.*228C>T | |
| NM_002562.5:c.614C>T | NP_002553.3:p.Thr205Met | |
| NR_033948.1:n.896C>T | ||
| NR_033949.1:n.896C>T | ||
| NR_033950.1:n.910C>T | ||
| NR_033951.1:n.757C>T | ||
| NR_033952.1:n.684C>T | ||
| NR_033953.1:n.597C>T | ||
| NR_033954.1:n.660C>T | ||
| NR_033955.1:n.757C>T | ||
| NR_033956.1:n.684C>T | ||
| XM_011538418.1:c.614C>T | XP_011536720.1:p.Thr205Ile | |
| XM_011538419.1:c.302C>T | XP_011536721.1:p.Thr101Met | |
| XM_011538420.1:c.-117C>T | XP_011536722.1:n.-117C>T | |
| XR_945459.1:n.190-3020G>A | ||
| XR_945460.1:n.299-3020G>A | ||
| XM_011538419.3:c.302C>T | XP_011536721.1:p.Thr101Met | |
| XM_011538420.3:c.-117C>T | XP_011536722.1:n.-117C>T | |
| XM_017019364.2:c.254C>T | XP_016874853.1:p.Thr85Met | |
| XM_017019365.2:c.254C>T | XP_016874854.1:p.Thr85Met | |
| XM_017019366.2:c.-140C>T | XP_016874855.1:n.-140C>T | |
| XM_017019367.2:c.-140C>T | XP_016874856.1:n.-140C>T | |
| XR_001749352.2:n.186+38061G>A | ||
| XR_001749353.2:n.304-3020G>A | ||
| XR_001749354.2:n.186+38061G>A | ||
| XR_945459.3:n.187-3020G>A | ||
| XR_945460.3:n.299-3020G>A | ||
| NM_002562.6:c.614C>T MANE Select | NP_002553.3:p.Thr205Met | |
| NR_033948.2:n.848C>T | ||
| NR_033949.2:n.848C>T | ||
| NR_033950.2:n.862C>T | ||
| NR_033951.2:n.709C>T | ||
| NR_033952.2:n.636C>T | ||
| NR_033953.2:n.540C>T | ||
| NR_033954.2:n.612C>T | ||
| NR_033955.2:n.709C>T | ||
| NR_033956.2:n.636C>T |