gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00004102 (NFE)
Genomes Max Group AF
0.00001972 (NFE)
Exomes Max Group AF
0.00004007 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.4544598C>T , CM000671.2:g.4544598C>T | GRCh38 |
| NC_000009.11:g.4544598C>T , CM000671.1:g.4544598C>T | GRCh37 |
| NC_000009.10:g.4534598C>T | NCBI36 |
| NG_017044.1:g.59172C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262352.8:c.123C>T (SLC1A1) MANE Select | ENSP00000262352.3:p.His41= | |
| ENST00000262352.7:c.123C>T (SLC1A1) | ENSP00000262352.3:p.His41= | |
| NM_004170.5:c.123C>T (SLC1A1) | NP_004161.4:p.His41= | |
| XM_011518007.1:c.192C>T (SLC1A1) | XP_011516309.1:p.His64= | |
| XM_011518008.1:c.132C>T (SLC1A1) | XP_011516310.1:p.His44= | |
| XM_011518009.1:c.63C>T (SLC1A1) | XP_011516311.1:p.His21= | |
| XM_011518010.1:c.92-16851C>T (SLC1A1) | XP_011516312.1:n.92-16851C>T | |
| XR_929448.1:n.32+217G>A | ||
| XM_011518008.3:c.132C>T (SLC1A1) | XP_011516310.1:p.His44= | |
| XM_011518009.3:c.63C>T (SLC1A1) | XP_011516311.1:p.His21= | |
| XM_017014882.2:c.*2-3408G>A (SPATA6L) | XP_016870371.1:n.*2-3408G>A | |
| XM_017015042.1:c.192C>T (SLC1A1) | XP_016870531.1:p.His64= | |
| XM_017015043.1:c.123C>T (SLC1A1) | XP_016870532.1:p.His41= | |
| XR_001746335.2:n.1479-3408G>A (SPATA6L) | ||
| NM_004170.6:c.123C>T (SLC1A1) MANE Select | NP_004161.4:p.His41= |