gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.31278606 (SAS)
Genomes Max Group AF
0.31278606 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.103498029G>T , CM000672.2:g.103498029G>T | GRCh38 |
| NC_000010.10:g.105257786G>T , CM000672.1:g.105257786G>T | GRCh37 |
| NC_000010.9:g.105247776G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369780.9:c.85+3557G>T (NEURL1) MANE Select | ENSP00000358795.4:n.85+3557G>T | |
| ENST00000369780.8:c.85+3557G>T (NEURL1) | ENSP00000358795.4:n.85+3557G>T | |
| NM_004210.4:c.85+3557G>T (NEURL1) | NP_004201.3:n.85+3557G>T | |
| NR_120675.1:n.120-3294C>A (NEURL1-AS1) | ||
| XM_011540331.1:c.85+3557G>T (NEURL1) | XP_011538633.1:n.85+3557G>T | |
| XM_011540335.1:c.85+3557G>T (NEURL1) | XP_011538637.1:n.85+3557G>T | |
| XR_945866.1:n.583+3557G>T (NEURL1) | ||
| XM_011540331.3:c.85+3557G>T (NEURL1) | XP_011538633.1:n.85+3557G>T | |
| XM_011540335.3:c.85+3557G>T (NEURL1) | XP_011538637.1:n.85+3557G>T | |
| XR_945866.2:n.685+3557G>T (NEURL1) | ||
| NM_004210.5:c.85+3557G>T (NEURL1) MANE Select | NP_004201.3:n.85+3557G>T |