Linked Data
dbSNP Id:
rs2059842020
gnomAD v4:
17-39727507-T-C
MyVariant Identifiers:
chr17:g.37883760T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39727507T>C , CM000679.2:g.39727507T>C | GRCh38 |
| NC_000017.10:g.37883760T>C , CM000679.1:g.37883760T>C | GRCh37 |
| NC_000017.9:g.35137286T>C | NCBI36 |
| NG_007503.1:g.44368T>C , LRG_724:g.44368T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269571.10:c.3372T>C MANE Select | ENSP00000269571.4:p.Thr1124= | |
| ENST00000269571.9:c.3372T>C | ENSP00000269571.4:p.Thr1124= | |
| ENST00000406381.6:c.3282T>C | ENSP00000385185.2:p.Thr1094= | |
| ENST00000445658.6:c.2544T>C | ENSP00000404047.2:p.Thr848= | |
| ENST00000541774.5:c.3327T>C | ENSP00000446466.1:p.Thr1109= | |
| ENST00000578373.5:c.*3162T>C | ENSP00000463427.1:n.*3162T>C | |
| ENST00000584450.5:c.3160-182T>C | ENSP00000463714.1:n.3160-182T>C | |
| ENST00000584601.5:c.3282T>C | ENSP00000462438.1:p.Thr1094= | |
| NM_001005862.2:c.3282T>C , LRG_724t1:c.3282T>C | NP_001005862.1:p.Thr1094= | |
| NM_001289936.1:c.3327T>C , LRG_724t4:c.3327T>C | NP_001276865.1:p.Thr1109= | |
| NM_001289937.1:c.3160-182T>C | NP_001276866.1:n.3160-182T>C | |
| NM_004448.3:c.3372T>C , LRG_724t2:c.3372T>C | NP_004439.2:p.Thr1124= | |
| NR_110535.1:n.3696T>C | ||
| XM_024450641.1:c.3510T>C | XP_024306409.1:p.Thr1170= | |
| XM_024450642.1:c.3465T>C | XP_024306410.1:p.Thr1155= | |
| XM_024450643.1:c.3420T>C | XP_024306411.1:p.Thr1140= | |
| NM_001005862.3:c.3282T>C | NP_001005862.1:p.Thr1094= | |
| NM_001289936.2:c.3327T>C | NP_001276865.1:p.Thr1109= | |
| NM_001289937.2:c.3160-182T>C | NP_001276866.1:n.3160-182T>C | |
| NM_001382782.1:c.3282T>C | NP_001369711.1:p.Thr1094= | |
| NM_001382783.1:c.3282T>C | NP_001369712.1:p.Thr1094= | |
| NM_001382784.1:c.3489T>C | NP_001369713.1:p.Thr1163= | |
| NM_001382785.1:c.3474T>C | NP_001369714.1:p.Thr1158= | |
| NM_001382786.1:c.3453T>C | NP_001369715.1:p.Thr1151= | |
| NM_001382787.1:c.3447T>C | NP_001369716.1:p.Thr1149= | |
| NM_001382788.1:c.3402T>C | NP_001369717.1:p.Thr1134= | |
| NM_001382789.1:c.3393T>C | NP_001369718.1:p.Thr1131= | |
| NM_001382790.1:c.3369T>C | NP_001369719.1:p.Thr1123= | |
| NM_001382791.1:c.3363T>C | NP_001369720.1:p.Thr1121= | |
| NM_001382792.1:c.3336T>C | NP_001369721.1:p.Thr1112= | |
| NM_001382793.1:c.3330T>C | NP_001369722.1:p.Thr1110= | |
| NM_001382794.1:c.3330T>C | NP_001369723.1:p.Thr1110= | |
| NM_001382795.1:c.3324T>C | NP_001369724.1:p.Thr1108= | |
| NM_001382796.1:c.3285T>C | NP_001369725.1:p.Thr1095= | |
| NM_001382797.1:c.3273T>C | NP_001369726.1:p.Thr1091= | |
| NM_001382798.1:c.3216T>C | NP_001369727.1:p.Thr1072= | |
| NM_001382799.1:c.3192T>C | NP_001369728.1:p.Thr1064= | |
| NM_001382800.1:c.3186T>C | NP_001369729.1:p.Thr1062= | |
| NM_001382801.1:c.3168T>C | NP_001369730.1:p.Thr1056= | |
| NM_001382802.1:c.3114T>C | NP_001369731.1:p.Thr1038= | |
| NM_001382803.1:c.3118-182T>C | NP_001369732.1:n.3118-182T>C | |
| NM_001382804.1:c.2544T>C | NP_001369733.1:p.Thr848= | |
| NM_001382805.1:c.2421T>C | NP_001369734.1:p.Thr807= | |
| NM_001382806.1:c.2334T>C | NP_001369735.1:p.Thr778= | |
| NM_004448.4:c.3372T>C MANE Select | NP_004439.2:p.Thr1124= | |
| NR_110535.2:n.3610T>C |