Revel Score:
ENST00000422398
0.161
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.59860202 (EAS)
Genomes Max Group AF
0.5814685 (EAS)
Exomes Max Group AF
0.59893569 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.4576680T>C , CM000671.2:g.4576680T>C | GRCh38 |
| NC_000009.11:g.4576680T>C , CM000671.1:g.4576680T>C | GRCh37 |
| NC_000009.10:g.4566680T>C | NCBI36 |
| NG_017044.1:g.91254T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262352.8:c.1110T>C (SLC1A1) MANE Select | ENSP00000262352.3:p.Thr370= | |
| ENST00000262352.7:c.1110T>C (SLC1A1) | ENSP00000262352.3:p.Thr370= | |
| ENST00000422398.1:c.397T>C (SLC1A1) | ||
| ENST00000485616.5:c.*782-22292A>G (SPATA6L) | ENSP00000420003.1:n.*782-22292A>G | |
| NM_004170.5:c.1110T>C (SLC1A1) | NP_004161.4:p.Thr370= | |
| XM_011518007.1:c.1179T>C (SLC1A1) | XP_011516309.1:p.Thr393= | |
| XM_011518008.1:c.1119T>C (SLC1A1) | XP_011516310.1:p.Thr373= | |
| XM_011518009.1:c.1050T>C (SLC1A1) | XP_011516311.1:p.Thr350= | |
| XM_011518010.1:c.969T>C (SLC1A1) | XP_011516312.1:p.Thr323= | |
| XM_011518008.3:c.1119T>C (SLC1A1) | XP_011516310.1:p.Thr373= | |
| XM_011518009.3:c.1050T>C (SLC1A1) | XP_011516311.1:p.Thr350= | |
| XM_017014882.2:c.*1+27499A>G (SPATA6L) | XP_016870371.1:n.*1+27499A>G | |
| XM_017015042.1:c.1071T>C (SLC1A1) | XP_016870531.1:p.Thr357= | |
| XM_017015043.1:c.1002T>C (SLC1A1) | XP_016870532.1:p.Thr334= | |
| XR_001746335.2:n.1478+23973A>G (SPATA6L) | ||
| NM_004170.6:c.1110T>C (SLC1A1) MANE Select | NP_004161.4:p.Thr370= |