gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.37028163 (MID)
Genomes Max Group AF
0.3270127 (NFE)
Exomes Max Group AF
0.10221052 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.4586808G>C , CM000671.2:g.4586808G>C | GRCh38 |
| NC_000009.11:g.4586808G>C , CM000671.1:g.4586808G>C | GRCh37 |
| NC_000009.10:g.4576808G>C | NCBI36 |
| NG_017044.1:g.101382G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262352.8:c.*1250G>C (SLC1A1) MANE Select | ENSP00000262352.3:n.*1250G>C | |
| ENST00000262352.7:c.*1250G>C (SLC1A1) | ENSP00000262352.3:n.*1250G>C | |
| ENST00000485616.5:c.*781+13845C>G (SPATA6L) | ENSP00000420003.1:n.*781+13845C>G | |
| NM_004170.5:c.*1250G>C (SLC1A1) | NP_004161.4:n.*1250G>C | |
| XM_011518007.1:c.*1250G>C (SLC1A1) | XP_011516309.1:n.*1250G>C | |
| XM_011518008.1:c.*1250G>C (SLC1A1) | XP_011516310.1:n.*1250G>C | |
| XM_011518009.1:c.*1250G>C (SLC1A1) | XP_011516311.1:n.*1250G>C | |
| XM_011518010.1:c.*1250G>C (SLC1A1) | XP_011516312.1:n.*1250G>C | |
| XM_011518008.3:c.*1250G>C (SLC1A1) | XP_011516310.1:n.*1250G>C | |
| XM_011518009.3:c.*1250G>C (SLC1A1) | XP_011516311.1:n.*1250G>C | |
| XM_017014882.2:c.*1+17371C>G (SPATA6L) | XP_016870371.1:n.*1+17371C>G | |
| XM_017015042.1:c.*1250G>C (SLC1A1) | XP_016870531.1:n.*1250G>C | |
| XM_017015043.1:c.*1250G>C (SLC1A1) | XP_016870532.1:n.*1250G>C | |
| XR_001746335.2:n.1478+13845C>G (SPATA6L) | ||
| NM_004170.6:c.*1250G>C (SLC1A1) MANE Select | NP_004161.4:n.*1250G>C |