Linked Data
dbSNP Id:
rs182366285
gnomAD v2:
2-24991495-G-T
gnomAD v3:
2-24768626-G-T
gnomAD v4:
2-24768626-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.24768626G>T , CM000664.2:g.24768626G>T | GRCh38 |
| NC_000002.11:g.24991495G>T , CM000664.1:g.24991495G>T | GRCh37 |
| NC_000002.10:g.24844999G>T | NCBI36 |
| NG_029014.1:g.189150G>T | |
| NG_029014.2:g.281577G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000348332.8:c.*235G>T MANE Select | ENSP00000320940.5:n.*235G>T | |
| ENST00000288599.9:c.*418G>T | ENSP00000288599.5:n.*418G>T | |
| ENST00000348332.7:c.*235G>T | ENSP00000320940.5:n.*235G>T | |
| ENST00000395856.3:c.*235G>T | ENSP00000379197.3:n.*235G>T | |
| ENST00000405141.5:c.*418G>T | ENSP00000385097.1:n.*418G>T | |
| ENST00000406961.5:c.*235G>T | ENSP00000385216.1:n.*235G>T | |
| NM_003743.4:c.*235G>T | NP_003734.3:n.*235G>T | |
| NM_147223.2:c.*418G>T | NP_671756.1:n.*418G>T | |
| NM_147233.2:c.*235G>T | NP_671766.1:n.*235G>T | |
| XM_005264625.1:c.*235G>T | XP_005264682.1:n.*235G>T | |
| XM_005264626.1:c.*235G>T | XP_005264683.1:n.*235G>T | |
| XM_005264627.1:c.*418G>T | XP_005264684.1:n.*418G>T | |
| XM_005264628.1:c.*415G>T | XP_005264685.1:n.*415G>T | |
| XM_011533141.1:c.*235G>T | XP_011531443.1:n.*235G>T | |
| NM_001362950.1:c.*418G>T | NP_001349879.1:n.*418G>T | |
| NM_001362952.1:c.*418G>T | NP_001349881.1:n.*418G>T | |
| NM_001362954.1:c.*415G>T | NP_001349883.1:n.*415G>T | |
| NM_001362955.1:c.*418G>T | NP_001349884.1:n.*418G>T | |
| NM_003743.5:c.*235G>T MANE Select | NP_003734.3:n.*235G>T | |
| NM_147223.3:c.*418G>T | NP_671756.1:n.*418G>T |