Linked Data
ClinVar Variation Id:
437776
ClinVar RCV Id:
RCV000500384
dbSNP Id:
rs776893791
ExAC:
6:99323401 T / C
gnomAD v2:
6-99323401-T-C
gnomAD v4:
6-98875525-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.98875525T>C , CM000668.2:g.98875525T>C | GRCh38 |
| NC_000006.11:g.99323401T>C , CM000668.1:g.99323401T>C | GRCh37 |
| NC_000006.10:g.99430122T>C | NCBI36 |
| NG_033903.1:g.77482A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369244.7:c.1592A>G MANE Select | ENSP00000358247.1:p.Gln531Arg | |
| ENST00000229971.2:c.1592A>G | ENSP00000229971.1:p.Gln531Arg | |
| ENST00000369244.6:c.1592A>G | ENSP00000358247.1:p.Gln531Arg | |
| NM_001278716.1:c.1592A>G | NP_001265645.1:p.Gln531Arg | |
| NM_012160.4:c.1592A>G | NP_036292.2:p.Gln531Arg | |
| NR_103836.1:n.1637A>G | ||
| XM_005266930.1:c.1520A>G | XP_005266987.1:p.Gln507Arg | |
| XM_005266930.3:c.1520A>G | XP_005266987.1:p.Gln507Arg | |
| XM_017010726.1:c.1592A>G | XP_016866215.1:p.Gln531Arg | |
| XM_017010727.2:c.1520A>G | XP_016866216.1:p.Gln507Arg | |
| XM_017010728.1:c.866A>G | XP_016866217.1:p.Gln289Arg | |
| NM_001278716.2:c.1592A>G MANE Select | NP_001265645.1:p.Gln531Arg | |
| NR_103836.2:n.1577A>G | ||
| NM_012160.5:c.1592A>G | NP_036292.2:p.Gln531Arg |