Linked Data
dbSNP Id:
rs748166170
ExAC:
10:55566457 A / G
gnomAD v2:
10-55566457-A-G
gnomAD v3:
10-53806697-A-G
gnomAD v4:
10-53806697-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.53806697A>G , CM000672.2:g.53806697A>G | GRCh38 |
| NC_000010.10:g.55566457A>G , CM000672.1:g.55566457A>G | GRCh37 |
| NC_000010.9:g.55236463A>G | NCBI36 |
| NG_009191.2:g.999595T>C | |
| NG_009191.3:g.1827486T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642496.1:c.3964T>C | ||
| ENST00000644397.2:c.5105T>C MANE Select | ENSP00000495195.1:p.Ile1702Thr | |
| ENST00000373965.6:c.4916T>C | ENSP00000363076.3:p.Ile1639Thr | |
| ENST00000414778.5:c.4913T>C | ENSP00000410304.2:p.Ile1638Thr | |
| ENST00000495484.5:c.1133T>C | ENSP00000480780.1:p.Ile378Thr | |
| ENST00000614895.4:c.4928T>C | ENSP00000478512.1:p.Ile1643Thr | |
| ENST00000616114.4:c.4910T>C | ENSP00000483745.1:p.Ile1637Thr | |
| ENST00000618301.4:c.1265T>C | ENSP00000482780.1:p.Ile422Thr | |
| ENST00000621708.4:c.4931T>C | ENSP00000484454.1:p.Ile1644Thr | |
| NM_001142771.1:c.4931T>C | NP_001136243.1:p.Ile1644Thr | |
| NM_001142772.1:c.4916T>C | NP_001136244.1:p.Ile1639Thr | |
| NM_001354420.1:c.4910T>C | NP_001341349.1:p.Ile1637Thr | |
| NM_001354429.1:c.5039T>C | NP_001341358.1:p.Ile1680Thr | |
| XR_001747192.2:n.11397T>C | ||
| XR_001747193.2:n.11388T>C | ||
| NM_001142771.2:c.4931T>C | NP_001136243.1:p.Ile1644Thr | |
| NM_001142772.2:c.4916T>C | NP_001136244.1:p.Ile1639Thr | |
| NM_001354420.2:c.4910T>C | NP_001341349.1:p.Ile1637Thr | |
| NM_001354429.2:c.5039T>C | NP_001341358.1:p.Ile1680Thr | |
| NM_001384140.1:c.5105T>C MANE Select | NP_001371069.1:p.Ile1702Thr |