Linked Data
dbSNP Id:
rs373763334
ExAC:
12:103237483 C / A
gnomAD v2:
12-103237483-C-A
gnomAD v4:
12-102843705-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102843705C>A , CM000674.2:g.102843705C>A | GRCh38 |
| NC_000012.11:g.103237483C>A , CM000674.1:g.103237483C>A | GRCh37 |
| NC_000012.10:g.101761613C>A | NCBI36 |
| NG_008690.1:g.78898G>T | |
| NG_008690.2:g.119706G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.1140G>T MANE Select | ENSP00000448059.1:p.Thr380= | |
| ENST00000307000.7:c.1125G>T | ENSP00000303500.2:p.Thr375= | |
| ENST00000549247.6:n.899G>T | ||
| ENST00000551114.2:n.802G>T | ||
| ENST00000553106.5:c.1140G>T | ENSP00000448059.1:p.Thr380= | |
| ENST00000635477.1:c.244G>T | ||
| ENST00000635528.1:n.655G>T | ||
| NM_000277.1:c.1140G>T | NP_000268.1:p.Thr380= | |
| XM_011538422.1:c.1083G>T | XP_011536724.1:p.Thr361= | |
| NM_000277.2:c.1140G>T | NP_000268.1:p.Thr380= | |
| NM_001354304.1:c.1140G>T | NP_001341233.1:p.Thr380= | |
| NM_000277.3:c.1140G>T MANE Select | NP_000268.1:p.Thr380= | |
| NM_001354304.2:c.1140G>T | NP_001341233.1:p.Thr380= |