Linked Data
dbSNP Id:
rs1010621794
gnomAD v2:
7-107302246-T-G
gnomAD v3:
7-107661801-T-G
gnomAD v4:
7-107661801-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107661801T>G , CM000669.2:g.107661801T>G | GRCh38 |
| NC_000007.13:g.107302246T>G , CM000669.1:g.107302246T>G | GRCh37 |
| NC_000007.12:g.107089482T>G | NCBI36 |
| NG_008489.1:g.6167T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644269.2:c.160T>G MANE Select | ENSP00000494017.1:p.Cys54Gly | |
| ENST00000265715.7:c.160T>G | ENSP00000265715.3:p.Cys54Gly | |
| ENST00000440056.1:c.160T>G | ENSP00000394760.1:p.Cys54Gly | |
| NM_000441.1:c.160T>G | NP_000432.1:p.Cys54Gly | |
| XM_005250425.1:c.160T>G | XP_005250482.1:p.Cys54Gly | |
| XM_006716025.2:c.160T>G | XP_006716088.1:p.Cys54Gly | |
| XM_005250425.2:c.160T>G | XP_005250482.1:p.Cys54Gly | |
| XM_006716025.3:c.160T>G | XP_006716088.1:p.Cys54Gly | |
| XM_017012318.1:c.160T>G | XP_016867807.1:p.Cys54Gly | |
| NM_000441.2:c.160T>G MANE Select | NP_000432.1:p.Cys54Gly |