Linked Data
ClinVar Variation Id:
1043022
ClinVar RCV Id:
RCV001347067
dbSNP Id:
rs770034965
gnomAD v2:
19-4817035-A-G
gnomAD v3:
19-4817023-A-G
gnomAD v4:
19-4817023-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4817023A>G , CM000681.2:g.4817023A>G | GRCh38 |
| NC_000019.9:g.4817035A>G , CM000681.1:g.4817035A>G | GRCh37 |
| NC_000019.8:g.4768035A>G | NCBI36 |
| NG_031998.1:g.19720T>C , LRG_358:g.19720T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248244.6:c.1355T>C MANE Select | ENSP00000248244.4:p.Ile452Thr | |
| ENST00000248244.5:c.1355T>C | ENSP00000248244.4:p.Ile452Thr | |
| ENST00000621756.1:c.938T>C | ENSP00000479467.1:p.Ile313Thr | |
| NM_182919.3:c.1355T>C , LRG_358t1:c.1355T>C | NP_891549.1:p.Ile452Thr | |
| NM_001385678.1:c.1313T>C | NP_001372607.1:p.Ile438Thr | |
| NM_001385679.1:c.1220T>C | NP_001372608.1:p.Ile407Thr | |
| NM_001385680.1:c.713T>C | NP_001372609.1:p.Ile238Thr | |
| NM_182919.4:c.1355T>C MANE Select | NP_891549.1:p.Ile452Thr |