Linked Data
ClinVar Variation Id:
2372655
ClinVar RCV Id:
RCV004212563
dbSNP Id:
rs149315947
ExAC:
6:35604934 A / G
gnomAD v2:
6-35604934-A-G
gnomAD v3:
6-35637157-A-G
gnomAD v4:
6-35637157-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35637157A>G , CM000668.2:g.35637157A>G | GRCh38 |
| NC_000006.11:g.35604934A>G , CM000668.1:g.35604934A>G | GRCh37 |
| NC_000006.10:g.35712912A>G | NCBI36 |
| NG_012645.2:g.96427T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357266.9:c.107T>C MANE Select | ENSP00000349811.3:p.Ile36Thr | |
| ENST00000357266.8:c.107T>C | ENSP00000349811.3:p.Ile36Thr | |
| ENST00000536438.5:c.107T>C | ENSP00000444810.1:p.Ile36Thr | |
| ENST00000539068.5:c.107T>C | ENSP00000441205.1:p.Ile36Thr | |
| ENST00000542713.1:c.107T>C | ENSP00000442340.1:p.Ile36Thr | |
| NM_001145775.2:c.107T>C | NP_001139247.1:p.Ile36Thr | |
| NM_001145776.1:c.107T>C | NP_001139248.1:p.Ile36Thr | |
| NM_001145777.1:c.107T>C | NP_001139249.1:p.Ile36Thr | |
| NM_004117.3:c.107T>C | NP_004108.1:p.Ile36Thr | |
| XR_926743.1:n.287+3337A>G | ||
| XR_002956345.1:n.1483-12193A>G | ||
| NM_001145775.3:c.107T>C | NP_001139247.1:p.Ile36Thr | |
| NM_001145776.2:c.107T>C | NP_001139248.1:p.Ile36Thr | |
| NM_001145777.2:c.107T>C | NP_001139249.1:p.Ile36Thr | |
| NM_004117.4:c.107T>C MANE Select | NP_004108.1:p.Ile36Thr |