Linked Data
ClinVar Variation Id:
17944
dbSNP Id:
rs104893973
ExAC:
6:137527386 A / G
gnomAD v2:
6-137527386-A-G
gnomAD v3:
6-137206249-A-G
gnomAD v4:
6-137206249-A-G
PubMed:
PMID:9389728
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.137206249A>G , CM000668.2:g.137206249A>G | GRCh38 |
| NC_000006.11:g.137527386A>G , CM000668.1:g.137527386A>G | GRCh37 |
| NC_000006.10:g.137569079A>G | NCBI36 |
| NG_007394.1:g.18182T>C , LRG_66:g.18182T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000414770.6:c.230T>C | ENSP00000394230.2:p.Ile77Thr | |
| ENST00000458076.6:c.201-43T>C | ENSP00000389249.2:n.201-43T>C | |
| ENST00000696693.1:c.137T>C | ENSP00000512814.1:p.Ile46Thr | |
| ENST00000696694.1:c.260T>C | ENSP00000512815.1:p.Ile87Thr | |
| ENST00000696695.1:c.260T>C | ENSP00000512816.1:p.Ile87Thr | |
| ENST00000696696.1:c.*159T>C | ENSP00000512817.1:n.*159T>C | |
| ENST00000696697.1:c.206T>C | ENSP00000512818.1:p.Ile69Thr | |
| ENST00000696698.1:c.260T>C | ENSP00000512819.1:p.Ile87Thr | |
| ENST00000696699.1:c.176T>C | ENSP00000512820.1:p.Ile59Thr | |
| ENST00000367739.9:c.260T>C MANE Select | ENSP00000356713.5:p.Ile87Thr | |
| ENST00000642390.1:c.203T>C | ENSP00000496468.1:p.Ile68Thr | |
| ENST00000643119.1:c.380T>C | ENSP00000495934.1:n.380T>C | |
| ENST00000644894.1:c.137T>C | ENSP00000495272.1:p.Ile46Thr | |
| ENST00000645045.1:c.369T>C | ||
| ENST00000645753.1:c.137T>C | ENSP00000495103.1:p.Ile46Thr | |
| ENST00000646036.1:c.230T>C | ENSP00000496387.1:p.Ile77Thr | |
| ENST00000646898.1:c.230T>C | ENSP00000494069.1:p.Ile77Thr | |
| ENST00000647124.1:c.137T>C | ENSP00000496549.1:p.Ile46Thr | |
| ENST00000367739.8:c.260T>C | ENSP00000356713.4:p.Ile87Thr | |
| ENST00000414770.5:c.230T>C | ENSP00000394230.1:p.Ile77Thr | |
| ENST00000458076.5:c.201-43T>C | ENSP00000389249.1:n.201-43T>C | |
| ENST00000543628.5:c.260T>C | ENSP00000443282.2:p.Ile87Thr | |
| NM_000416.2:c.260T>C , LRG_66t1:c.260T>C | NP_000407.1:p.Ile87Thr | |
| XM_006715470.2:c.230T>C | XP_006715533.1:p.Ile77Thr | |
| XM_006715471.2:c.137T>C | XP_006715534.1:p.Ile46Thr | |
| XM_011535793.1:c.230T>C | XP_011534095.1:p.Ile77Thr | |
| XM_011535794.1:c.230T>C | XP_011534096.1:p.Ile77Thr | |
| NM_001363526.1:c.230T>C | NP_001350455.1:p.Ile77Thr | |
| NM_001363527.1:c.137T>C | NP_001350456.1:p.Ile46Thr | |
| XM_006715470.3:c.230T>C | XP_006715533.1:p.Ile77Thr | |
| XM_011535793.2:c.230T>C | XP_011534095.1:p.Ile77Thr | |
| NM_000416.3:c.260T>C MANE Select | NP_000407.1:p.Ile87Thr |