Linked Data
dbSNP Id:
rs34550504
ExAC:
11:113803070 T / C
gnomAD v2:
11-113803070-T-C
gnomAD v3:
11-113932348-T-C
gnomAD v4:
11-113932348-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.113932348T>C , CM000673.2:g.113932348T>C | GRCh38 |
| NC_000011.9:g.113803070T>C , CM000673.1:g.113803070T>C | GRCh37 |
| NC_000011.8:g.113308280T>C | NCBI36 |
| NG_011483.1:g.32482T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260191.8:c.428T>C MANE Select | ENSP00000260191.2:p.Ile143Thr | |
| ENST00000260191.7:c.428T>C | ENSP00000260191.2:p.Ile143Thr | |
| ENST00000260191.6:c.428T>C | ENSP00000260191.2:p.Ile143Thr | |
| ENST00000537778.5:c.395T>C | ENSP00000443118.1:p.Ile132Thr | |
| ENST00000543092.1:c.214T>C | ||
| NM_006028.4:c.428T>C | NP_006019.1:p.Ile143Thr | |
| XM_011543063.1:c.395T>C | XP_011541365.1:p.Ile132Thr | |
| XM_011543064.1:c.227T>C | XP_011541366.1:p.Ile76Thr | |
| XM_011543065.1:c.221T>C | XP_011541367.1:p.Ile74Thr | |
| XM_011543066.1:c.395T>C | XP_011541368.1:p.Ile132Thr | |
| NM_001363563.1:c.395T>C | NP_001350492.1:p.Ile132Thr | |
| XM_017018552.2:c.221T>C | XP_016874041.1:p.Ile74Thr | |
| XM_024448767.1:c.134T>C | XP_024304535.1:p.Ile45Thr | |
| XR_001748034.2:n.679T>C | ||
| NM_001363563.2:c.395T>C | NP_001350492.1:p.Ile132Thr | |
| NM_006028.5:c.428T>C MANE Select | NP_006019.1:p.Ile143Thr |