Revel Score:
ENST00000310581 (MANE Select)
0.149
ENST00000334602
0.149
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002477 (NFE)
Genomes Max Group AF
0.00004765 (NFE)
Exomes Max Group AF
0.00002085 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1253825G>A , CM000667.2:g.1253825G>A | GRCh38 |
| NC_000005.9:g.1253940G>A , CM000667.1:g.1253940G>A | GRCh37 |
| NC_000005.8:g.1306940G>A | NCBI36 |
| NG_009265.1:g.46223C>T , LRG_343:g.46223C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310581.10:c.3302C>T MANE Select | ENSP00000309572.5:p.Thr1101Met | |
| ENST00000656021.1:c.*2848C>T | ENSP00000499759.1:n.*2848C>T | |
| ENST00000310581.9:c.3302C>T | ENSP00000309572.5:p.Thr1101Met | |
| ENST00000334602.10:c.3113C>T | ENSP00000334346.6:p.Thr1038Met | |
| ENST00000460137.6:c.2895C>T | ENSP00000425003.1:n.2895C>T | |
| ENST00000484238.6:n.1744C>T | ||
| NM_001193376.1:c.3113C>T | NP_001180305.1:p.Thr1038Met | |
| NM_198253.2:c.3302C>T , LRG_343t1:c.3302C>T | NP_937983.2:p.Thr1101Met | |
| XM_011514104.1:c.1772C>T | XP_011512406.1:p.Thr591Met | |
| XM_011514105.1:c.1658C>T | XP_011512407.1:p.Thr553Met | |
| XM_011514106.1:c.1658C>T | XP_011512408.1:p.Thr553Met | |
| XR_925683.1:n.287-849G>A | ||
| NR_149162.1:n.2989C>T | ||
| NR_149163.1:n.2953C>T | ||
| NM_001193376.2:c.3113C>T | NP_001180305.1:p.Thr1038Met | |
| NM_198253.3:c.3302C>T MANE Select | NP_937983.2:p.Thr1101Met | |
| NR_149162.2:n.3010C>T | ||
| NR_149163.2:n.2974C>T | ||
| NM_001193376.3:c.3113C>T | NP_001180305.1:p.Thr1038Met | |
| NR_149162.3:n.3010C>T | ||
| NR_149163.3:n.2974C>T |