Linked Data
dbSNP Id:
rs1283878907
gnomAD v2:
7-74203431-C-G
gnomAD v3:
7-74789087-C-G
gnomAD v4:
7-74789087-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.74789087C>G , CM000669.2:g.74789087C>G | GRCh38 |
| NC_000007.13:g.74203431C>G , CM000669.1:g.74203431C>G | GRCh37 |
| NC_000007.12:g.73841367C>G | NCBI36 |
| NG_009078.2:g.20124C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000289473.11:c.1100C>G MANE Select | ENSP00000289473.4:p.Pro367Arg | |
| ENST00000289473.10:c.1100C>G | ENSP00000289473.4:p.Pro367Arg | |
| ENST00000289473.8:c.1100C>G | ENSP00000289473.4:p.Pro367Arg | |
| ENST00000398421.6:n.2127C>G | ||
| ENST00000455062.2:n.1209C>G | ||
| NM_000265.5:c.1100C>G | NP_000256.4:p.Pro367Arg | |
| XM_005250543.3:c.*21C>G | XP_005250600.2:n.*21C>G | |
| XM_011516498.1:c.1099C>G | XP_011514800.1:p.Arg367Gly | |
| XM_011516501.1:c.707C>G | XP_011514803.1:p.Pro236Arg | |
| NM_000265.6:c.1100C>G | NP_000256.4:p.Pro367Arg | |
| NM_000265.7:c.1100C>G MANE Select | NP_000256.4:p.Pro367Arg |