gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.44758298 (EAS)
Genomes Max Group AF
0.44758298 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.4559892C>T , CM000671.2:g.4559892C>T | GRCh38 |
| NC_000009.11:g.4559892C>T , CM000671.1:g.4559892C>T | GRCh37 |
| NC_000009.10:g.4549892C>T | NCBI36 |
| NG_017044.1:g.74466C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262352.8:c.233-1557C>T (SLC1A1) MANE Select | ENSP00000262352.3:n.233-1557C>T | |
| ENST00000262352.7:c.233-1557C>T (SLC1A1) | ENSP00000262352.3:n.233-1557C>T | |
| ENST00000485616.5:c.*782-5504G>A (SPATA6L) | ENSP00000420003.1:n.*782-5504G>A | |
| ENST00000490167.1:n.88C>T (SLC1A1) | ||
| NM_004170.5:c.233-1557C>T (SLC1A1) | NP_004161.4:n.233-1557C>T | |
| XM_011518007.1:c.302-1557C>T (SLC1A1) | XP_011516309.1:n.302-1557C>T | |
| XM_011518008.1:c.242-1557C>T (SLC1A1) | XP_011516310.1:n.242-1557C>T | |
| XM_011518009.1:c.173-1557C>T (SLC1A1) | XP_011516311.1:n.173-1557C>T | |
| XM_011518010.1:c.92-1557C>T (SLC1A1) | XP_011516312.1:n.92-1557C>T | |
| XM_011518008.3:c.242-1557C>T (SLC1A1) | XP_011516310.1:n.242-1557C>T | |
| XM_011518009.3:c.173-1557C>T (SLC1A1) | XP_011516311.1:n.173-1557C>T | |
| XM_017014882.2:c.*2-18702G>A (SPATA6L) | XP_016870371.1:n.*2-18702G>A | |
| XM_017015042.1:c.302-1557C>T (SLC1A1) | XP_016870531.1:n.302-1557C>T | |
| XM_017015043.1:c.233-1557C>T (SLC1A1) | XP_016870532.1:n.233-1557C>T | |
| XR_001746335.2:n.1479-18702G>A (SPATA6L) | ||
| NM_004170.6:c.233-1557C>T (SLC1A1) MANE Select | NP_004161.4:n.233-1557C>T |