gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.50257418 (MID)
Genomes Max Group AF
0.43590159 (SAS)
Exomes Max Group AF
0.50394333 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.4564432G>A , CM000671.2:g.4564432G>A | GRCh38 |
| NC_000009.11:g.4564432G>A , CM000671.1:g.4564432G>A | GRCh37 |
| NC_000009.10:g.4554432G>A | NCBI36 |
| NG_017044.1:g.79006G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262352.8:c.414G>A (SLC1A1) MANE Select | ENSP00000262352.3:p.Thr138= | |
| ENST00000262352.7:c.414G>A (SLC1A1) | ENSP00000262352.3:p.Thr138= | |
| ENST00000485616.5:c.*782-10044C>T (SPATA6L) | ENSP00000420003.1:n.*782-10044C>T | |
| ENST00000490167.1:n.458G>A (SLC1A1) | ||
| NM_004170.5:c.414G>A (SLC1A1) | NP_004161.4:p.Thr138= | |
| XM_011518007.1:c.483G>A (SLC1A1) | XP_011516309.1:p.Thr161= | |
| XM_011518008.1:c.423G>A (SLC1A1) | XP_011516310.1:p.Thr141= | |
| XM_011518009.1:c.354G>A (SLC1A1) | XP_011516311.1:p.Thr118= | |
| XM_011518010.1:c.273G>A (SLC1A1) | XP_011516312.1:p.Thr91= | |
| XM_011518008.3:c.423G>A (SLC1A1) | XP_011516310.1:p.Thr141= | |
| XM_011518009.3:c.354G>A (SLC1A1) | XP_011516311.1:p.Thr118= | |
| XM_017014882.2:c.*2-23242C>T (SPATA6L) | XP_016870371.1:n.*2-23242C>T | |
| XM_017015042.1:c.483G>A (SLC1A1) | XP_016870531.1:p.Thr161= | |
| XM_017015043.1:c.414G>A (SLC1A1) | XP_016870532.1:p.Thr138= | |
| XR_001746335.2:n.1479-23242C>T (SPATA6L) | ||
| NM_004170.6:c.414G>A (SLC1A1) MANE Select | NP_004161.4:p.Thr138= |