Linked Data
dbSNP Id:
rs2036707
gnomAD v2:
13-108484454-G-A
gnomAD v3:
13-107832106-G-A
gnomAD v4:
13-107832106-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.107832106G>A , CM000675.2:g.107832106G>A | GRCh38 |
| NC_000013.10:g.108484454G>A , CM000675.1:g.108484454G>A | GRCh37 |
| NC_000013.9:g.107282455G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375915.4:c.915+33576C>T (NALF1) MANE Select | ENSP00000365080.1:n.915+33576C>T | |
| ENST00000375915.3:c.915+33576C>T (NALF1) | ENSP00000365080.1:n.915+33576C>T | |
| NM_001080396.2:c.915+33576C>T (NALF1) | NP_001073865.1:n.915+33576C>T | |
| NR_046848.1:n.57+3296C>T (NALF1-IT1) | ||
| XM_011521109.1:c.915+33576C>T (NALF1) | XP_011519411.1:n.915+33576C>T | |
| XM_011521109.3:c.915+33576C>T (NALF1) | XP_011519411.1:n.915+33576C>T | |
| NM_001080396.3:c.915+33576C>T (NALF1) MANE Select | NP_001073865.1:n.915+33576C>T |