gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.1730741 (EAS)
Genomes Max Group AF
0.1730741 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.23793441C>T , CM000666.2:g.23793441C>T | GRCh38 |
| NC_000004.11:g.23795064C>T , CM000666.1:g.23795064C>T | GRCh37 |
| NC_000004.10:g.23404162C>T | NCBI36 |
| NG_028250.1:g.101637G>A | |
| NG_028250.2:g.684535G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264867.7:c.*2381G>A MANE Select | ENSP00000264867.2:n.*2381G>A | |
| ENST00000264867.6:c.*2381G>A | ENSP00000264867.2:n.*2381G>A | |
| ENST00000509702.5:n.2433+2385G>A | ||
| NM_013261.3:c.*2381G>A | NP_037393.1:n.*2381G>A | |
| XM_005248130.2:c.*2381G>A | XP_005248187.1:n.*2381G>A | |
| XM_005248131.3:c.*2381G>A | XP_005248188.1:n.*2381G>A | |
| XM_005248132.1:c.*2381G>A | XP_005248189.1:n.*2381G>A | |
| XM_005248134.3:c.*2410G>A | XP_005248191.1:n.*2410G>A | |
| XM_011513764.1:c.*2381G>A | XP_011512066.1:n.*2381G>A | |
| XM_011513765.1:c.*2381G>A | XP_011512067.1:n.*2381G>A | |
| XM_011513766.1:c.*2381G>A | XP_011512068.1:n.*2381G>A | |
| XM_011513767.1:c.*2381G>A | XP_011512069.1:n.*2381G>A | |
| XM_011513768.1:c.*2381G>A | XP_011512070.1:n.*2381G>A | |
| XM_011513770.1:c.*2381G>A | XP_011512072.1:n.*2381G>A | |
| XM_011513771.1:c.*2381G>A | XP_011512073.1:n.*2381G>A | |
| NM_001330751.1:c.*2381G>A | NP_001317680.1:n.*2381G>A | |
| NM_001330752.1:c.*2381G>A | NP_001317681.1:n.*2381G>A | |
| NM_001330753.1:c.*2381G>A | NP_001317682.1:n.*2381G>A | |
| NM_001354825.1:c.*2381G>A | NP_001341754.1:n.*2381G>A | |
| NM_001354826.1:c.*2381G>A | NP_001341755.1:n.*2381G>A | |
| NM_001354827.1:c.*2381G>A | NP_001341756.1:n.*2381G>A | |
| NM_013261.4:c.*2381G>A | NP_037393.1:n.*2381G>A | |
| NR_148981.1:n.5305G>A | ||
| NR_148982.1:n.5378G>A | ||
| NR_148983.1:n.5531G>A | ||
| NR_148984.1:n.4929G>A | ||
| NR_148985.1:n.5443G>A | ||
| NR_148986.1:n.5448G>A | ||
| NR_148987.1:n.5530G>A | ||
| XM_005248131.5:c.*2381G>A | XP_005248188.1:n.*2381G>A | |
| XM_005248134.4:c.*2410G>A | XP_005248191.1:n.*2410G>A | |
| XM_024453878.1:c.*2381G>A | XP_024309646.1:n.*2381G>A | |
| NM_013261.5:c.*2381G>A MANE Select | NP_037393.1:n.*2381G>A | |
| NM_001330751.2:c.*2381G>A | NP_001317680.1:n.*2381G>A | |
| NM_001330752.2:c.*2381G>A | NP_001317681.1:n.*2381G>A | |
| NM_001354825.2:c.*2381G>A | NP_001341754.1:n.*2381G>A | |
| NM_001354826.2:c.*2381G>A | NP_001341755.1:n.*2381G>A | |
| NM_001354827.2:c.*2381G>A | NP_001341756.1:n.*2381G>A | |
| NR_148981.2:n.5381G>A | ||
| NR_148982.2:n.5454G>A | ||
| NR_148983.2:n.5607G>A | ||
| NR_148984.2:n.4899G>A | ||
| NR_148985.2:n.5519G>A | ||
| NR_148986.2:n.5524G>A | ||
| NR_148987.2:n.5606G>A | ||
| NM_001330753.2:c.*2381G>A | NP_001317682.1:n.*2381G>A |