Linked Data
dbSNP Id:
rs780322768
ExAC:
8:10480131 T / C
gnomAD v2:
8-10480131-T-C
gnomAD v3:
8-10622621-T-C
gnomAD v4:
8-10622621-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.10622621T>C , CM000670.2:g.10622621T>C | GRCh38 |
| NC_000008.10:g.10480131T>C , CM000670.1:g.10480131T>C | GRCh37 |
| NC_000008.9:g.10517541T>C | NCBI36 |
| NG_028035.1:g.37487A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382483.4:c.581A>G MANE Select | ENSP00000371923.3:p.Lys194Arg | |
| ENST00000329335.3:n.831A>G | ||
| ENST00000382483.3:c.581A>G | ENSP00000371923.3:p.Lys194Arg | |
| NM_178857.5:c.581A>G | NP_849188.4:p.Lys194Arg | |
| NM_178857.6:c.581A>G MANE Select | NP_849188.4:p.Lys194Arg |