Linked Data
dbSNP Id:
rs3780413
gnomAD v2:
9-4567353-C-G
gnomAD v3:
9-4567353-C-G
gnomAD v4:
9-4567353-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.4567353C>G , CM000671.2:g.4567353C>G | GRCh38 |
| NC_000009.11:g.4567353C>G , CM000671.1:g.4567353C>G | GRCh37 |
| NC_000009.10:g.4557353C>G | NCBI36 |
| NG_017044.1:g.81927C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262352.8:c.484-316C>G (SLC1A1) MANE Select | ENSP00000262352.3:n.484-316C>G | |
| ENST00000262352.7:c.484-316C>G (SLC1A1) | ENSP00000262352.3:n.484-316C>G | |
| ENST00000485616.5:c.*782-12965G>C (SPATA6L) | ENSP00000420003.1:n.*782-12965G>C | |
| NM_004170.5:c.484-316C>G (SLC1A1) | NP_004161.4:n.484-316C>G | |
| XM_011518007.1:c.553-316C>G (SLC1A1) | XP_011516309.1:n.553-316C>G | |
| XM_011518008.1:c.493-316C>G (SLC1A1) | XP_011516310.1:n.493-316C>G | |
| XM_011518009.1:c.424-316C>G (SLC1A1) | XP_011516311.1:n.424-316C>G | |
| XM_011518010.1:c.343-316C>G (SLC1A1) | XP_011516312.1:n.343-316C>G | |
| XM_011518008.3:c.493-316C>G (SLC1A1) | XP_011516310.1:n.493-316C>G | |
| XM_011518009.3:c.424-316C>G (SLC1A1) | XP_011516311.1:n.424-316C>G | |
| XM_017014882.2:c.*2-26163G>C (SPATA6L) | XP_016870371.1:n.*2-26163G>C | |
| XM_017015042.1:c.553-316C>G (SLC1A1) | XP_016870531.1:n.553-316C>G | |
| XM_017015043.1:c.484-316C>G (SLC1A1) | XP_016870532.1:n.484-316C>G | |
| XR_001746335.2:n.1479-26163G>C (SPATA6L) | ||
| NM_004170.6:c.484-316C>G (SLC1A1) MANE Select | NP_004161.4:n.484-316C>G |