Linked Data
ClinVar Variation Id:
2432087
ClinVar RCV Id:
RCV003135346
dbSNP Id:
rs202143387
gnomAD v4:
6-53507004-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.53507004T>C , CM000668.2:g.53507004T>C | GRCh38 |
| NC_000006.11:g.53371802T>C , CM000668.1:g.53371802T>C | GRCh37 |
| NC_000006.10:g.53479761T>C | NCBI36 |
| NG_012071.1:g.43030A>G | |
| NG_012071.2:g.43126A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000513939.6:c.992A>G | ENSP00000424211.2:p.Gln331Arg | |
| ENST00000616923.5:c.947A>G | ENSP00000482756.2:p.Gln316Arg | |
| ENST00000643939.1:c.1112A>G | ENSP00000495686.1:p.Gln371Arg | |
| ENST00000650454.1:c.1106A>G MANE Select | ENSP00000497574.1:p.Gln369Arg | |
| ENST00000229416.10:c.1106A>G | ENSP00000229416.6:p.Gln369Arg | |
| ENST00000504353.1:n.75A>G | ||
| ENST00000509541.5:n.1551A>G | ||
| ENST00000616923.4:c.992A>G | ENSP00000482756.1:p.Gln331Arg | |
| NM_001197115.1:c.992A>G | NP_001184044.1:p.Gln331Arg | |
| NM_001498.3:c.1106A>G | NP_001489.1:p.Gln369Arg | |
| NM_001498.4:c.1106A>G MANE Select | NP_001489.1:p.Gln369Arg | |
| XM_017010749.1:c.395A>G | XP_016866238.1:p.Gln132Arg | |
| NM_001197115.2:c.992A>G | NP_001184044.1:p.Gln331Arg |