Linked Data
ClinVar Variation Id:
2553674
ClinVar RCV Id:
RCV003303971
dbSNP Id:
rs376730337
gnomAD v2:
1-152284858-T-G
gnomAD v4:
1-152312382-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.152312382T>G , CM000663.2:g.152312382T>G | GRCh38 |
| NC_000001.10:g.152284858T>G , CM000663.1:g.152284858T>G | GRCh37 |
| NC_000001.9:g.150551482T>G | NCBI36 |
| NG_016190.1:g.17822A>C , LRG_1028:g.17822A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368799.2:c.2504A>C MANE Select | ENSP00000357789.1:p.Gln835Pro | |
| ENST00000368799.1:c.2504A>C | ENSP00000357789.1:p.Gln835Pro | |
| NM_002016.1:c.2504A>C , LRG_1028t1:c.2504A>C | NP_002007.1:p.Gln835Pro | |
| XM_011509329.1:c.2504A>C | XP_011507631.1:p.Gln835Pro | |
| NM_002016.2:c.2504A>C MANE Select | NP_002007.1:p.Gln835Pro |