Linked Data
dbSNP Id:
rs770107394
gnomAD v2:
18-22057157-T-G
gnomAD v3:
18-24477193-T-G
gnomAD v4:
18-24477193-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.24477193T>G , CM000680.2:g.24477193T>G | GRCh38 |
| NC_000018.9:g.22057157T>G , CM000680.1:g.22057157T>G | GRCh37 |
| NC_000018.8:g.20311155T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256906.5:c.804T>G MANE Select | ENSP00000256906.4:p.Asn268Lys | |
| ENST00000256906.4:c.804T>G | ENSP00000256906.4:p.Asn268Lys | |
| ENST00000426880.2:c.540T>G | ENSP00000402526.2:p.Asn180Lys | |
| NM_001143828.1:c.540T>G | NP_001137300.1:p.Asn180Lys | |
| NM_001160166.1:c.*436T>G | NP_001153638.1:n.*436T>G | |
| NM_021624.3:c.804T>G | NP_067637.2:p.Asn268Lys | |
| XM_011526133.1:c.357+8242T>G | XP_011524435.1:n.357+8242T>G | |
| NM_021624.4:c.804T>G MANE Select | NP_067637.2:p.Asn268Lys | |
| NM_001143828.2:c.540T>G | NP_001137300.1:p.Asn180Lys | |
| NM_001160166.2:c.*436T>G | NP_001153638.1:n.*436T>G |