gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.59555394 (NFE)
Genomes Max Group AF
0.59555394 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75645819G>A , CM000679.2:g.75645819G>A | GRCh38 |
| NC_000017.10:g.73641899G>A , CM000679.1:g.73641899G>A | GRCh37 |
| NC_000017.9:g.71153494G>A | NCBI36 |
| NG_029617.1:g.26371C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317905.10:c.1229+5367C>T (RECQL5) MANE Select | ENSP00000317636.5:n.1229+5367C>T | |
| ENST00000317905.9:c.1229+5367C>T (RECQL5) | ENSP00000317636.5:n.1229+5367C>T | |
| ENST00000423245.6:c.1148+5367C>T (RECQL5) | ENSP00000394820.2:n.1148+5367C>T | |
| ENST00000578201.5:c.1229+5367C>T (RECQL5) | ENSP00000463099.1:n.1229+5367C>T | |
| ENST00000582464.5:c.479+4698C>T (RECQL5) | ||
| NM_004259.6:c.1229+5367C>T (RECQL5) | NP_004250.4:n.1229+5367C>T | |
| XM_005256903.3:c.-691G>A (SMIM6) | XP_005256960.1:n.-691G>A | |
| XM_005257818.2:c.1229+5367C>T (RECQL5) | XP_005257875.1:n.1229+5367C>T | |
| XM_005257823.2:c.1229+5367C>T (RECQL5) | XP_005257880.1:n.1229+5367C>T | |
| XM_011525482.1:c.1229+5367C>T (RECQL5) | XP_011523784.1:n.1229+5367C>T | |
| XM_005257818.4:c.1229+5367C>T (RECQL5) | XP_005257875.1:n.1229+5367C>T | |
| XR_002958088.1:n.1401+5367C>T (RECQL5) | ||
| NM_004259.7:c.1229+5367C>T (RECQL5) MANE Select | NP_004250.4:n.1229+5367C>T |