Linked Data
dbSNP Id:
rs759052633
gnomAD v2:
1-197062300-A-G
gnomAD v3:
1-197093170-A-G
gnomAD v4:
1-197093170-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197093170A>G , CM000663.2:g.197093170A>G | GRCh38 |
| NC_000001.10:g.197062300A>G , CM000663.1:g.197062300A>G | GRCh37 |
| NC_000001.9:g.195328923A>G | NCBI36 |
| NG_015867.1:g.58525T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367408.6:n.2463T>C | ||
| ENST00000367409.9:c.9176T>C MANE Select | ENSP00000356379.4:p.Ile3059Thr | |
| ENST00000680265.1:c.9398T>C | ENSP00000505384.1:p.Ile3133Thr | |
| ENST00000680710.1:c.9176T>C | ENSP00000506676.1:p.Ile3059Thr | |
| ENST00000294732.11:c.4421T>C | ENSP00000294732.7:p.Ile1474Thr | |
| ENST00000367408.5:c.2171T>C | ENSP00000356378.1:p.Ile724Thr | |
| ENST00000367409.8:c.9176T>C | ENSP00000356379.4:p.Ile3059Thr | |
| ENST00000612785.1:c.3134T>C | ENSP00000479244.1:p.Ile1045Thr | |
| NM_001206846.1:c.4421T>C | NP_001193775.1:p.Ile1474Thr | |
| NM_018136.4:c.9176T>C | NP_060606.3:p.Ile3059Thr | |
| NM_018136.5:c.9176T>C MANE Select | NP_060606.3:p.Ile3059Thr | |
| NM_001206846.2:c.4421T>C | NP_001193775.1:p.Ile1474Thr |