Linked Data
dbSNP Id:
rs1432512562
gnomAD v2:
17-37883663-T-C
gnomAD v3:
17-39727410-T-C
gnomAD v4:
17-39727410-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39727410T>C , CM000679.2:g.39727410T>C | GRCh38 |
| NC_000017.10:g.37883663T>C , CM000679.1:g.37883663T>C | GRCh37 |
| NC_000017.9:g.35137189T>C | NCBI36 |
| NG_007503.1:g.44271T>C , LRG_724:g.44271T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269571.10:c.3275T>C MANE Select | ENSP00000269571.4:p.Met1092Thr | |
| ENST00000269571.9:c.3275T>C | ENSP00000269571.4:p.Met1092Thr | |
| ENST00000406381.6:c.3185T>C | ENSP00000385185.2:p.Met1062Thr | |
| ENST00000445658.6:c.2447T>C | ENSP00000404047.2:p.Met816Thr | |
| ENST00000541774.5:c.3230T>C | ENSP00000446466.1:p.Met1077Thr | |
| ENST00000578373.5:c.*3065T>C | ENSP00000463427.1:n.*3065T>C | |
| ENST00000584450.5:c.3160-279T>C | ENSP00000463714.1:n.3160-279T>C | |
| ENST00000584601.5:c.3185T>C | ENSP00000462438.1:p.Met1062Thr | |
| NM_001005862.2:c.3185T>C , LRG_724t1:c.3185T>C | NP_001005862.1:p.Met1062Thr | |
| NM_001289936.1:c.3230T>C , LRG_724t4:c.3230T>C | NP_001276865.1:p.Met1077Thr | |
| NM_001289937.1:c.3160-279T>C | NP_001276866.1:n.3160-279T>C | |
| NM_004448.3:c.3275T>C , LRG_724t2:c.3275T>C | NP_004439.2:p.Met1092Thr | |
| NR_110535.1:n.3599T>C | ||
| XM_024450641.1:c.3413T>C | XP_024306409.1:p.Met1138Thr | |
| XM_024450642.1:c.3368T>C | XP_024306410.1:p.Met1123Thr | |
| XM_024450643.1:c.3323T>C | XP_024306411.1:p.Met1108Thr | |
| NM_001005862.3:c.3185T>C | NP_001005862.1:p.Met1062Thr | |
| NM_001289936.2:c.3230T>C | NP_001276865.1:p.Met1077Thr | |
| NM_001289937.2:c.3160-279T>C | NP_001276866.1:n.3160-279T>C | |
| NM_001382782.1:c.3185T>C | NP_001369711.1:p.Met1062Thr | |
| NM_001382783.1:c.3185T>C | NP_001369712.1:p.Met1062Thr | |
| NM_001382784.1:c.3392T>C | NP_001369713.1:p.Met1131Thr | |
| NM_001382785.1:c.3377T>C | NP_001369714.1:p.Met1126Thr | |
| NM_001382786.1:c.3356T>C | NP_001369715.1:p.Met1119Thr | |
| NM_001382787.1:c.3350T>C | NP_001369716.1:p.Met1117Thr | |
| NM_001382788.1:c.3305T>C | NP_001369717.1:p.Met1102Thr | |
| NM_001382789.1:c.3296T>C | NP_001369718.1:p.Met1099Thr | |
| NM_001382790.1:c.3272T>C | NP_001369719.1:p.Met1091Thr | |
| NM_001382791.1:c.3266T>C | NP_001369720.1:p.Met1089Thr | |
| NM_001382792.1:c.3239T>C | NP_001369721.1:p.Met1080Thr | |
| NM_001382793.1:c.3233T>C | NP_001369722.1:p.Met1078Thr | |
| NM_001382794.1:c.3233T>C | NP_001369723.1:p.Met1078Thr | |
| NM_001382795.1:c.3227T>C | NP_001369724.1:p.Met1076Thr | |
| NM_001382796.1:c.3188T>C | NP_001369725.1:p.Met1063Thr | |
| NM_001382797.1:c.3176T>C | NP_001369726.1:p.Met1059Thr | |
| NM_001382798.1:c.3119T>C | NP_001369727.1:p.Met1040Thr | |
| NM_001382799.1:c.3095T>C | NP_001369728.1:p.Met1032Thr | |
| NM_001382800.1:c.3089T>C | NP_001369729.1:p.Met1030Thr | |
| NM_001382801.1:c.3071T>C | NP_001369730.1:p.Met1024Thr | |
| NM_001382802.1:c.3017T>C | NP_001369731.1:p.Met1006Thr | |
| NM_001382803.1:c.3118-279T>C | NP_001369732.1:n.3118-279T>C | |
| NM_001382804.1:c.2447T>C | NP_001369733.1:p.Met816Thr | |
| NM_001382805.1:c.2324T>C | NP_001369734.1:p.Met775Thr | |
| NM_001382806.1:c.2237T>C | NP_001369735.1:p.Met746Thr | |
| NM_004448.4:c.3275T>C MANE Select | NP_004439.2:p.Met1092Thr | |
| NR_110535.2:n.3513T>C |