Linked Data
dbSNP Id:
rs1053578
gnomAD v2:
17-43221285-T-C
gnomAD v3:
17-45143918-T-C
gnomAD v4:
17-45143918-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.45143918T>C , CM000679.2:g.45143918T>C | GRCh38 |
| NC_000017.10:g.43221285T>C , CM000679.1:g.43221285T>C | GRCh37 |
| NC_000017.9:g.40577068T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000321854.13:c.*347T>C MANE Select | ENSP00000314440.8:n.*347T>C | |
| ENST00000321854.12:c.*347T>C | ENSP00000314440.8:n.*347T>C | |
| ENST00000398322.7:c.*347T>C | ENSP00000381367.2:n.*347T>C | |
| ENST00000431281.5:c.*277T>C | ENSP00000405969.1:n.*277T>C | |
| ENST00000585553.5:n.1983T>C | ||
| ENST00000591859.5:c.*277T>C | ENSP00000465610.1:n.*277T>C | |
| ENST00000592162.5:c.*315T>C | ENSP00000466305.1:n.*315T>C | |
| NM_001135704.1:c.*277T>C | NP_001129176.1:n.*277T>C | |
| NM_001135705.1:c.*347T>C | NP_001129177.1:n.*347T>C | |
| NM_001135706.1:c.*277T>C | NP_001129178.1:n.*277T>C | |
| NM_024722.2:c.*347T>C | NP_078998.1:n.*347T>C | |
| XM_005257673.1:c.*277T>C | XP_005257730.1:n.*277T>C | |
| XM_005257674.1:c.*277T>C | XP_005257731.1:n.*277T>C | |
| XM_005257677.1:c.*277T>C | XP_005257734.1:n.*277T>C | |
| XM_006722085.1:c.*347T>C | XP_006722148.1:n.*347T>C | |
| XM_006722088.1:c.*347T>C | XP_006722151.1:n.*347T>C | |
| XM_006722089.1:c.*315T>C | XP_006722152.1:n.*315T>C | |
| XM_006722090.1:c.*315T>C | XP_006722153.1:n.*315T>C | |
| XM_011525255.1:c.*277T>C | XP_011523557.1:n.*277T>C | |
| XM_011525256.1:c.*277T>C | XP_011523558.1:n.*277T>C | |
| XM_011525257.1:c.*347T>C | XP_011523559.1:n.*347T>C | |
| NM_001135705.2:c.*347T>C | NP_001129177.1:n.*347T>C | |
| NM_001135706.2:c.*277T>C | NP_001129178.1:n.*277T>C | |
| NM_001135707.2:c.*1308T>C | NP_001129179.1:n.*1308T>C | |
| NM_001321352.1:c.*277T>C | NP_001308281.1:n.*277T>C | |
| NM_001321353.1:c.*277T>C | NP_001308282.1:n.*277T>C | |
| NM_024722.3:c.*347T>C | NP_078998.1:n.*347T>C | |
| XM_006722085.2:c.*347T>C | XP_006722148.1:n.*347T>C | |
| XM_017025084.1:c.*277T>C | XP_016880573.1:n.*277T>C | |
| XM_017025085.1:c.*277T>C | XP_016880574.1:n.*277T>C | |
| XM_017025086.1:c.*277T>C | XP_016880575.1:n.*277T>C | |
| XM_017025087.1:c.*277T>C | XP_016880576.1:n.*277T>C | |
| XM_017025088.1:c.*277T>C | XP_016880577.1:n.*277T>C | |
| XM_017025089.2:c.*1138T>C | XP_016880578.1:n.*1138T>C | |
| XM_017025090.1:c.*347T>C | XP_016880579.1:n.*347T>C | |
| XM_017025091.1:c.*347T>C | XP_016880580.1:n.*347T>C | |
| XM_017025092.2:c.*347T>C | XP_016880581.1:n.*347T>C | |
| XM_017025094.1:c.*1308T>C | XP_016880583.1:n.*1308T>C | |
| XM_017025095.1:c.*347T>C | XP_016880584.1:n.*347T>C | |
| XM_017025096.1:c.*315T>C | XP_016880585.1:n.*315T>C | |
| XM_017025097.1:c.*347T>C | XP_016880586.1:n.*347T>C | |
| XM_017025098.1:c.*347T>C | XP_016880587.1:n.*347T>C | |
| XM_017025099.1:c.*315T>C | XP_016880588.1:n.*315T>C | |
| XM_024450949.1:c.*1138T>C | XP_024306717.1:n.*1138T>C | |
| NM_001135705.3:c.*347T>C MANE Select | NP_001129177.1:n.*347T>C | |
| NM_001135706.3:c.*277T>C | NP_001129178.1:n.*277T>C | |
| NM_001135707.3:c.*1308T>C | NP_001129179.1:n.*1308T>C | |
| NM_001321352.2:c.*277T>C | NP_001308281.1:n.*277T>C | |
| NM_001321353.2:c.*277T>C | NP_001308282.1:n.*277T>C | |
| NM_024722.4:c.*347T>C | NP_078998.1:n.*347T>C | |
| NM_001378111.1:c.*1308T>C | NP_001365040.1:n.*1308T>C | |
| NM_001378112.1:c.*1308T>C | NP_001365041.1:n.*1308T>C |