Linked Data
dbSNP Id:
rs753337412
ExAC:
17:37884139 G / A
gnomAD v2:
17-37884139-G-A
gnomAD v4:
17-39727886-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39727886G>A , CM000679.2:g.39727886G>A | GRCh38 |
| NC_000017.10:g.37884139G>A , CM000679.1:g.37884139G>A | GRCh37 |
| NC_000017.9:g.35137665G>A | NCBI36 |
| NG_007503.1:g.44747G>A , LRG_724:g.44747G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269571.10:c.3610G>A MANE Select | ENSP00000269571.4:p.Ala1204Thr | |
| ENST00000269571.9:c.3610G>A | ENSP00000269571.4:p.Ala1204Thr | |
| ENST00000406381.6:c.3520G>A | ENSP00000385185.2:p.Ala1174Thr | |
| ENST00000445658.6:c.2782G>A | ENSP00000404047.2:p.Ala928Thr | |
| ENST00000541774.5:c.3565G>A | ENSP00000446466.1:p.Ala1189Thr | |
| ENST00000578373.5:c.*3400G>A | ENSP00000463427.1:n.*3400G>A | |
| ENST00000584450.5:c.*189G>A | ENSP00000463714.1:n.*189G>A | |
| ENST00000584601.5:c.3520G>A | ENSP00000462438.1:p.Ala1174Thr | |
| NM_001005862.2:c.3520G>A , LRG_724t1:c.3520G>A | NP_001005862.1:p.Ala1174Thr | |
| NM_001289936.1:c.3565G>A , LRG_724t4:c.3565G>A | NP_001276865.1:p.Ala1189Thr | |
| NM_001289937.1:c.*189G>A | NP_001276866.1:n.*189G>A | |
| NM_004448.3:c.3610G>A , LRG_724t2:c.3610G>A | NP_004439.2:p.Ala1204Thr | |
| NR_110535.1:n.3934G>A | ||
| XM_024450641.1:c.3748G>A | XP_024306409.1:p.Ala1250Thr | |
| XM_024450642.1:c.3703G>A | XP_024306410.1:p.Ala1235Thr | |
| XM_024450643.1:c.3658G>A | XP_024306411.1:p.Ala1220Thr | |
| NM_001005862.3:c.3520G>A | NP_001005862.1:p.Ala1174Thr | |
| NM_001289936.2:c.3565G>A | NP_001276865.1:p.Ala1189Thr | |
| NM_001289937.2:c.*189G>A | NP_001276866.1:n.*189G>A | |
| NM_001382782.1:c.3520G>A | NP_001369711.1:p.Ala1174Thr | |
| NM_001382783.1:c.3520G>A | NP_001369712.1:p.Ala1174Thr | |
| NM_001382784.1:c.3727G>A | NP_001369713.1:p.Ala1243Thr | |
| NM_001382785.1:c.3712G>A | NP_001369714.1:p.Ala1238Thr | |
| NM_001382786.1:c.3691G>A | NP_001369715.1:p.Ala1231Thr | |
| NM_001382787.1:c.3685G>A | NP_001369716.1:p.Ala1229Thr | |
| NM_001382788.1:c.3640G>A | NP_001369717.1:p.Ala1214Thr | |
| NM_001382789.1:c.3631G>A | NP_001369718.1:p.Ala1211Thr | |
| NM_001382790.1:c.3607G>A | NP_001369719.1:p.Ala1203Thr | |
| NM_001382791.1:c.3601G>A | NP_001369720.1:p.Ala1201Thr | |
| NM_001382792.1:c.3574G>A | NP_001369721.1:p.Ala1192Thr | |
| NM_001382793.1:c.3568G>A | NP_001369722.1:p.Ala1190Thr | |
| NM_001382794.1:c.3568G>A | NP_001369723.1:p.Ala1190Thr | |
| NM_001382795.1:c.3562G>A | NP_001369724.1:p.Ala1188Thr | |
| NM_001382796.1:c.3523G>A | NP_001369725.1:p.Ala1175Thr | |
| NM_001382797.1:c.3511G>A | NP_001369726.1:p.Ala1171Thr | |
| NM_001382798.1:c.3454G>A | NP_001369727.1:p.Ala1152Thr | |
| NM_001382799.1:c.3430G>A | NP_001369728.1:p.Ala1144Thr | |
| NM_001382800.1:c.3424G>A | NP_001369729.1:p.Ala1142Thr | |
| NM_001382801.1:c.3406G>A | NP_001369730.1:p.Ala1136Thr | |
| NM_001382802.1:c.3352G>A | NP_001369731.1:p.Ala1118Thr | |
| NM_001382803.1:c.*189G>A | NP_001369732.1:n.*189G>A | |
| NM_001382804.1:c.2782G>A | NP_001369733.1:p.Ala928Thr | |
| NM_001382805.1:c.2659G>A | NP_001369734.1:p.Ala887Thr | |
| NM_001382806.1:c.2572G>A | NP_001369735.1:p.Ala858Thr | |
| NM_004448.4:c.3610G>A MANE Select | NP_004439.2:p.Ala1204Thr | |
| NR_110535.2:n.3848G>A |