gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.62881662 (EAS)
Genomes Max Group AF
0.62881662 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.130828738T>G , CM000668.2:g.130828738T>G | GRCh38 |
| NC_000006.11:g.131149878T>G , CM000668.1:g.131149878T>G | GRCh37 |
| NC_000006.10:g.131191571T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000541421.2:c.238+1087T>G (SMLR1) MANE Select | ENSP00000456026.1:n.238+1087T>G | |
| NM_001195597.1:c.238+1087T>G (SMLR1) | NP_001182526.1:n.238+1087T>G | |
| XR_942326.1:n.4300A>C (EPB41L2) | ||
| XR_001743213.2:n.4061A>C (EPB41L2) | ||
| NM_001195597.2:c.238+1087T>G (SMLR1) MANE Select | NP_001182526.1:n.238+1087T>G |