Linked Data
dbSNP Id:
rs770731635
ExAC:
7:117251812 T / C
gnomAD v2:
7-117251812-T-C
gnomAD v4:
7-117611758-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117611758T>C , CM000669.2:g.117611758T>C | GRCh38 |
| NC_000007.13:g.117251812T>C , CM000669.1:g.117251812T>C | GRCh37 |
| NC_000007.12:g.117039048T>C | NCBI36 |
| NG_016465.4:g.150975T>C , LRG_663:g.150975T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.3317T>C | ENSP00000497673.2:p.Ile1106Thr | |
| ENST00000647978.2:c.*3031T>C | ENSP00000497658.1:n.*3031T>C | |
| ENST00000649781.2:c.3134T>C | ENSP00000497203.1:p.Ile1045Thr | |
| ENST00000685018.2:c.3317T>C | ENSP00000510194.2:p.Ile1106Thr | |
| ENST00000687278.2:c.3317T>C | ENSP00000509593.2:p.Ile1106Thr | |
| ENST00000699585.1:c.3317T>C | ENSP00000514456.1:p.Ile1106Thr | |
| ENST00000699598.1:c.3317T>C | ENSP00000514467.1:p.Ile1106Thr | |
| ENST00000699599.1:c.3317T>C | ENSP00000514468.1:p.Ile1106Thr | |
| ENST00000699600.1:c.3317T>C | ENSP00000514469.1:p.Ile1106Thr | |
| ENST00000699601.1:c.*1617T>C | ENSP00000514470.1:n.*1617T>C | |
| ENST00000699602.1:c.3317T>C | ENSP00000514471.1:p.Ile1106Thr | |
| ENST00000699604.1:c.*3141T>C | ENSP00000514472.1:n.*3141T>C | |
| ENST00000699605.1:c.2891T>C | ENSP00000514473.1:p.Ile964Thr | |
| ENST00000685018.1:c.65T>C | ENSP00000510194.1:p.Ile22Thr | |
| ENST00000687278.1:c.908T>C | ENSP00000509593.1:p.Ile303Thr | |
| ENST00000003084.11:c.3317T>C MANE Select | ENSP00000003084.6:p.Ile1106Thr | |
| ENST00000647720.1:c.967T>C | ||
| ENST00000648260.1:c.2099T>C | ENSP00000497957.1:p.Ile700Thr | |
| ENST00000649406.1:c.3134T>C | ENSP00000497965.1:p.Ile1045Thr | |
| ENST00000649781.1:c.3134T>C | ENSP00000497203.1:p.Ile1045Thr | |
| ENST00000003084.10:c.3317T>C | ENSP00000003084.6:p.Ile1106Thr | |
| ENST00000426809.5:c.3227T>C | ENSP00000389119.1:p.Ile1076Thr | |
| ENST00000468795.1:c.142T>C | ||
| NM_000492.3:c.3317T>C , LRG_663t1:c.3317T>C | NP_000483.3:p.Ile1106Thr | |
| XM_011515751.1:c.3407T>C | XP_011514053.1:p.Ile1136Thr | |
| XM_011515752.1:c.3407T>C | XP_011514054.1:p.Ile1136Thr | |
| XM_011515753.1:c.3074T>C | XP_011514055.1:p.Ile1025Thr | |
| XM_011515754.1:c.3074T>C | XP_011514056.1:p.Ile1025Thr | |
| NM_000492.4:c.3317T>C MANE Select | NP_000483.3:p.Ile1106Thr |