Linked Data
ClinVar Variation Id:
375654
ClinVar RCV Id:
RCV002508783
dbSNP Id:
rs10509681
ExAC:
10:96798749 T / C
gnomAD v2:
10-96798749-T-C
gnomAD v3:
10-95038992-T-C
gnomAD v4:
10-95038992-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.95038992T>C , CM000672.2:g.95038992T>C | GRCh38 |
| NC_000010.10:g.96798749T>C , CM000672.1:g.96798749T>C | GRCh37 |
| NC_000010.9:g.96788739T>C | NCBI36 |
| NG_007972.1:g.35506A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371270.6:c.1196A>G MANE Select | ENSP00000360317.3:p.Lys399Arg | |
| ENST00000371270.5:c.1196A>G | ENSP00000360317.3:p.Lys399Arg | |
| ENST00000479946.2:n.1539A>G | ||
| ENST00000490994.6:c.*982A>G | ENSP00000433314.1:n.*982A>G | |
| ENST00000525991.5:c.*771A>G | ENSP00000433842.1:n.*771A>G | |
| ENST00000526814.5:n.1451A>G | ||
| ENST00000527420.5:c.*53A>G | ENSP00000433191.1:n.*53A>G | |
| ENST00000527953.5:n.1490A>G | ||
| ENST00000531714.1:n.384A>G | ||
| ENST00000533320.5:n.1430A>G | ||
| ENST00000535898.5:c.890A>G | ENSP00000445062.1:p.Lys297Arg | |
| ENST00000539050.5:c.986A>G | ENSP00000442343.2:p.Lys329Arg | |
| ENST00000623108.3:c.986A>G | ENSP00000485110.1:p.Lys329Arg | |
| NM_000770.3:c.1196A>G MANE Select | NP_000761.3:p.Lys399Arg | |
| NM_001198853.1:c.986A>G | NP_001185782.1:p.Lys329Arg | |
| NM_001198854.1:c.890A>G | NP_001185783.1:p.Lys297Arg | |
| NM_001198855.1:c.986A>G | NP_001185784.1:p.Lys329Arg | |
| XR_945610.1:n.1331A>G |