Linked Data
dbSNP Id:
rs17737058
gnomAD v2:
2-24991569-C-G
gnomAD v3:
2-24768700-C-G
gnomAD v4:
2-24768700-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.24768700C>G , CM000664.2:g.24768700C>G | GRCh38 |
| NC_000002.11:g.24991569C>G , CM000664.1:g.24991569C>G | GRCh37 |
| NC_000002.10:g.24845073C>G | NCBI36 |
| NG_029014.1:g.189224C>G | |
| NG_029014.2:g.281651C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000348332.8:c.*309C>G MANE Select | ENSP00000320940.5:n.*309C>G | |
| ENST00000288599.9:c.*492C>G | ENSP00000288599.5:n.*492C>G | |
| ENST00000348332.7:c.*309C>G | ENSP00000320940.5:n.*309C>G | |
| ENST00000395856.3:c.*309C>G | ENSP00000379197.3:n.*309C>G | |
| ENST00000405141.5:c.*492C>G | ENSP00000385097.1:n.*492C>G | |
| ENST00000406961.5:c.*309C>G | ENSP00000385216.1:n.*309C>G | |
| NM_003743.4:c.*309C>G | NP_003734.3:n.*309C>G | |
| NM_147223.2:c.*492C>G | NP_671756.1:n.*492C>G | |
| NM_147233.2:c.*309C>G | NP_671766.1:n.*309C>G | |
| XM_005264625.1:c.*309C>G | XP_005264682.1:n.*309C>G | |
| XM_005264626.1:c.*309C>G | XP_005264683.1:n.*309C>G | |
| XM_005264627.1:c.*492C>G | XP_005264684.1:n.*492C>G | |
| XM_005264628.1:c.*489C>G | XP_005264685.1:n.*489C>G | |
| XM_011533141.1:c.*309C>G | XP_011531443.1:n.*309C>G | |
| NM_001362950.1:c.*492C>G | NP_001349879.1:n.*492C>G | |
| NM_001362952.1:c.*492C>G | NP_001349881.1:n.*492C>G | |
| NM_001362954.1:c.*489C>G | NP_001349883.1:n.*489C>G | |
| NM_001362955.1:c.*492C>G | NP_001349884.1:n.*492C>G | |
| NM_003743.5:c.*309C>G MANE Select | NP_003734.3:n.*309C>G | |
| NM_147223.3:c.*492C>G | NP_671756.1:n.*492C>G |