Linked Data
ClinVar Variation Id:
45009
dbSNP Id:
rs397516985
ExAC:
12:33021901 A / G
gnomAD v2:
12-33021901-A-G
gnomAD v3:
12-32868967-A-G
gnomAD v4:
12-32868967-A-G
COSMIC:
COSM6371322
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32868967A>G , CM000674.2:g.32868967A>G | GRCh38 |
| NC_000012.11:g.33021901A>G , CM000674.1:g.33021901A>G | GRCh37 |
| NC_000012.10:g.32913168A>G | NCBI36 |
| NG_009000.1:g.32880T>C , LRG_398:g.32880T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700559.2:c.1130T>C | ENSP00000515065.2:p.Ile377Thr | |
| ENST00000700563.2:c.1130T>C | ENSP00000515066.2:p.Ile377Thr | |
| ENST00000700559.1:c.345T>C | ||
| ENST00000700560.1:n.345T>C | ||
| ENST00000700561.1:n.471T>C | ||
| ENST00000700563.1:c.1084T>C | ||
| ENST00000700564.1:n.1134T>C | ||
| ENST00000700565.1:n.983T>C | ||
| ENST00000070846.11:c.1130T>C | ENSP00000070846.6:p.Ile377Thr | |
| ENST00000340811.9:c.1130T>C MANE Select | ENSP00000342800.5:p.Ile377Thr | |
| ENST00000070846.10:c.1130T>C | ENSP00000070846.6:p.Ile377Thr | |
| ENST00000340811.8:c.1130T>C | ENSP00000342800.4:p.Ile377Thr | |
| ENST00000613243.1:c.1130T>C | ENSP00000478295.1:p.Ile377Thr | |
| NM_001005242.2:c.1130T>C | NP_001005242.2:p.Ile377Thr | |
| NM_004572.3:c.1130T>C , LRG_398t1:c.1130T>C | NP_004563.2:p.Ile377Thr | |
| NM_001005242.3:c.1130T>C MANE Select | NP_001005242.2:p.Ile377Thr | |
| NM_004572.4:c.1130T>C | NP_004563.2:p.Ile377Thr |