Linked Data
dbSNP Id:
rs1054502852
gnomAD v2:
12-80878350-T-C
gnomAD v3:
12-80484571-T-C
gnomAD v4:
12-80484571-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.80484571T>C , CM000674.2:g.80484571T>C | GRCh38 |
| NC_000012.11:g.80878350T>C , CM000674.1:g.80878350T>C | GRCh37 |
| NC_000012.10:g.79402481T>C | NCBI36 |
| NG_034052.1:g.45226T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644991.3:c.1325T>C MANE Select | ENSP00000495607.1:p.Ile442Thr | |
| ENST00000614701.4:c.1325T>C | ENSP00000482885.1:p.Ile442Thr | |
| ENST00000616559.4:c.1451T>C | ENSP00000483259.1:p.Ile484Thr | |
| NM_001145026.1:c.1325T>C | NP_001138498.1:p.Ile442Thr | |
| XM_011538290.1:c.1325T>C | XP_011536592.1:p.Ile442Thr | |
| XM_017019273.1:c.1991T>C | XP_016874762.1:p.Ile664Thr | |
| XM_017019274.1:c.1991T>C | XP_016874763.1:p.Ile664Thr | |
| XM_017019275.1:c.1991T>C | XP_016874764.1:p.Ile664Thr | |
| XR_001748688.1:n.2128T>C | ||
| XR_001748689.1:n.2128T>C | ||
| NM_001145026.2:c.1325T>C MANE Select | NP_001138498.1:p.Ile442Thr |