Revel Score:
ENST00000264867 (MANE Select)
0.100
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00006613 (AMR)
Exomes Max Group AF
0.00008862 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.23813084G>T , CM000666.2:g.23813084G>T | GRCh38 |
| NC_000004.11:g.23814707G>T , CM000666.1:g.23814707G>T | GRCh37 |
| NC_000004.10:g.23423805G>T | NCBI36 |
| NG_028250.1:g.81994C>A | |
| NG_028250.2:g.664892C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264867.7:c.1835C>A MANE Select | ENSP00000264867.2:p.Thr612Lys | |
| ENST00000264867.6:c.1835C>A | ENSP00000264867.2:p.Thr612Lys | |
| ENST00000506055.5:c.*1050C>A | ENSP00000423075.1:n.*1050C>A | |
| ENST00000509702.5:n.1875C>A | ||
| ENST00000613098.4:c.1454C>A | ENSP00000481498.1:p.Thr485Lys | |
| NM_013261.3:c.1835C>A | NP_037393.1:p.Thr612Lys | |
| XM_005248130.2:c.1850C>A | XP_005248187.1:p.Thr617Lys | |
| XM_005248131.3:c.1847C>A | XP_005248188.1:p.Thr616Lys | |
| XM_005248132.1:c.1826C>A | XP_005248189.1:p.Thr609Lys | |
| XM_005248134.3:c.1850C>A | XP_005248191.1:p.Thr617Lys | |
| XM_011513764.1:c.1835C>A | XP_011512066.1:p.Thr612Lys | |
| XM_011513765.1:c.1799C>A | XP_011512067.1:p.Thr600Lys | |
| XM_011513766.1:c.1730C>A | XP_011512068.1:p.Thr577Lys | |
| XM_011513767.1:c.1730C>A | XP_011512069.1:p.Thr577Lys | |
| XM_011513768.1:c.1730C>A | XP_011512070.1:p.Thr577Lys | |
| XM_011513769.1:c.1850C>A | XP_011512071.1:p.Thr617Lys | |
| XM_011513770.1:c.1454C>A | XP_011512072.1:p.Thr485Lys | |
| XM_011513771.1:c.1454C>A | XP_011512073.1:p.Thr485Lys | |
| NM_001330751.1:c.1850C>A | NP_001317680.1:p.Thr617Lys | |
| NM_001330752.1:c.1799C>A | NP_001317681.1:p.Thr600Lys | |
| NM_001330753.1:c.1454C>A | NP_001317682.1:p.Thr485Lys | |
| NM_001354825.1:c.1850C>A | NP_001341754.1:p.Thr617Lys | |
| NM_001354826.1:c.1454C>A | NP_001341755.1:p.Thr485Lys | |
| NM_001354827.1:c.1850C>A | NP_001341756.1:p.Thr617Lys | |
| NM_013261.4:c.1835C>A | NP_037393.1:p.Thr612Lys | |
| NR_148981.1:n.2362C>A | ||
| NR_148982.1:n.2435C>A | ||
| NR_148983.1:n.2588C>A | ||
| NR_148984.1:n.1986C>A | ||
| NR_148985.1:n.2500C>A | ||
| NR_148986.1:n.2505C>A | ||
| NR_148987.1:n.2587C>A | ||
| XM_005248131.5:c.1847C>A | XP_005248188.1:p.Thr616Lys | |
| XM_005248134.4:c.1850C>A | XP_005248191.1:p.Thr617Lys | |
| XM_011513769.2:c.1850C>A | XP_011512071.1:p.Thr617Lys | |
| XM_024453878.1:c.1850C>A | XP_024309646.1:p.Thr617Lys | |
| NM_013261.5:c.1835C>A MANE Select | NP_037393.1:p.Thr612Lys | |
| NM_001330751.2:c.1850C>A | NP_001317680.1:p.Thr617Lys | |
| NM_001330752.2:c.1799C>A | NP_001317681.1:p.Thr600Lys | |
| NM_001354825.2:c.1850C>A | NP_001341754.1:p.Thr617Lys | |
| NM_001354826.2:c.1454C>A | NP_001341755.1:p.Thr485Lys | |
| NM_001354827.2:c.1850C>A | NP_001341756.1:p.Thr617Lys | |
| NR_148981.2:n.2438C>A | ||
| NR_148982.2:n.2511C>A | ||
| NR_148983.2:n.2664C>A | ||
| NR_148984.2:n.1956C>A | ||
| NR_148985.2:n.2576C>A | ||
| NR_148986.2:n.2581C>A | ||
| NR_148987.2:n.2663C>A | ||
| NM_001330753.2:c.1454C>A | NP_001317682.1:p.Thr485Lys |