Linked Data
dbSNP Id:
rs1045132154
gnomAD v2:
17-37884087-C-T
gnomAD v3:
17-39727834-C-T
gnomAD v4:
17-39727834-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39727834C>T , CM000679.2:g.39727834C>T | GRCh38 |
| NC_000017.10:g.37884087C>T , CM000679.1:g.37884087C>T | GRCh37 |
| NC_000017.9:g.35137613C>T | NCBI36 |
| NG_007503.1:g.44695C>T , LRG_724:g.44695C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269571.10:c.3558C>T MANE Select | ENSP00000269571.4:p.Ala1186= | |
| ENST00000269571.9:c.3558C>T | ENSP00000269571.4:p.Ala1186= | |
| ENST00000406381.6:c.3468C>T | ENSP00000385185.2:p.Ala1156= | |
| ENST00000445658.6:c.2730C>T | ENSP00000404047.2:p.Ala910= | |
| ENST00000541774.5:c.3513C>T | ENSP00000446466.1:p.Ala1171= | |
| ENST00000578373.5:c.*3348C>T | ENSP00000463427.1:n.*3348C>T | |
| ENST00000584450.5:c.*137C>T | ENSP00000463714.1:n.*137C>T | |
| ENST00000584601.5:c.3468C>T | ENSP00000462438.1:p.Ala1156= | |
| NM_001005862.2:c.3468C>T , LRG_724t1:c.3468C>T | NP_001005862.1:p.Ala1156= | |
| NM_001289936.1:c.3513C>T , LRG_724t4:c.3513C>T | NP_001276865.1:p.Ala1171= | |
| NM_001289937.1:c.*137C>T | NP_001276866.1:n.*137C>T | |
| NM_004448.3:c.3558C>T , LRG_724t2:c.3558C>T | NP_004439.2:p.Ala1186= | |
| NR_110535.1:n.3882C>T | ||
| XM_024450641.1:c.3696C>T | XP_024306409.1:p.Ala1232= | |
| XM_024450642.1:c.3651C>T | XP_024306410.1:p.Ala1217= | |
| XM_024450643.1:c.3606C>T | XP_024306411.1:p.Ala1202= | |
| NM_001005862.3:c.3468C>T | NP_001005862.1:p.Ala1156= | |
| NM_001289936.2:c.3513C>T | NP_001276865.1:p.Ala1171= | |
| NM_001289937.2:c.*137C>T | NP_001276866.1:n.*137C>T | |
| NM_001382782.1:c.3468C>T | NP_001369711.1:p.Ala1156= | |
| NM_001382783.1:c.3468C>T | NP_001369712.1:p.Ala1156= | |
| NM_001382784.1:c.3675C>T | NP_001369713.1:p.Ala1225= | |
| NM_001382785.1:c.3660C>T | NP_001369714.1:p.Ala1220= | |
| NM_001382786.1:c.3639C>T | NP_001369715.1:p.Ala1213= | |
| NM_001382787.1:c.3633C>T | NP_001369716.1:p.Ala1211= | |
| NM_001382788.1:c.3588C>T | NP_001369717.1:p.Ala1196= | |
| NM_001382789.1:c.3579C>T | NP_001369718.1:p.Ala1193= | |
| NM_001382790.1:c.3555C>T | NP_001369719.1:p.Ala1185= | |
| NM_001382791.1:c.3549C>T | NP_001369720.1:p.Ala1183= | |
| NM_001382792.1:c.3522C>T | NP_001369721.1:p.Ala1174= | |
| NM_001382793.1:c.3516C>T | NP_001369722.1:p.Ala1172= | |
| NM_001382794.1:c.3516C>T | NP_001369723.1:p.Ala1172= | |
| NM_001382795.1:c.3510C>T | NP_001369724.1:p.Ala1170= | |
| NM_001382796.1:c.3471C>T | NP_001369725.1:p.Ala1157= | |
| NM_001382797.1:c.3459C>T | NP_001369726.1:p.Ala1153= | |
| NM_001382798.1:c.3402C>T | NP_001369727.1:p.Ala1134= | |
| NM_001382799.1:c.3378C>T | NP_001369728.1:p.Ala1126= | |
| NM_001382800.1:c.3372C>T | NP_001369729.1:p.Ala1124= | |
| NM_001382801.1:c.3354C>T | NP_001369730.1:p.Ala1118= | |
| NM_001382802.1:c.3300C>T | NP_001369731.1:p.Ala1100= | |
| NM_001382803.1:c.*137C>T | NP_001369732.1:n.*137C>T | |
| NM_001382804.1:c.2730C>T | NP_001369733.1:p.Ala910= | |
| NM_001382805.1:c.2607C>T | NP_001369734.1:p.Ala869= | |
| NM_001382806.1:c.2520C>T | NP_001369735.1:p.Ala840= | |
| NM_004448.4:c.3558C>T MANE Select | NP_004439.2:p.Ala1186= | |
| NR_110535.2:n.3796C>T |