Linked Data
ClinVar Variation Id:
2553675
ClinVar RCV Id:
RCV003303972
dbSNP Id:
rs1187742895
gnomAD v2:
1-152280174-G-C
gnomAD v4:
1-152307698-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.152307698G>C , CM000663.2:g.152307698G>C | GRCh38 |
| NC_000001.10:g.152280174G>C , CM000663.1:g.152280174G>C | GRCh37 |
| NC_000001.9:g.150546798G>C | NCBI36 |
| NG_016190.1:g.22506C>G , LRG_1028:g.22506C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368799.2:c.7188C>G MANE Select | ENSP00000357789.1:p.His2396Gln | |
| ENST00000368799.1:c.7188C>G | ENSP00000357789.1:p.His2396Gln | |
| NM_002016.1:c.7188C>G , LRG_1028t1:c.7188C>G | NP_002007.1:p.His2396Gln | |
| XM_011509329.1:c.7188C>G | XP_011507631.1:p.His2396Gln | |
| NM_002016.2:c.7188C>G MANE Select | NP_002007.1:p.His2396Gln |